PubMed:9472666 JSONTXT

{"project":"NCBI-Disease-Corpus-GPT5-withguidelines","denotations":[{"id":"T1","span":{"begin":35,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":101,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":321,"end":341},"obj":"DiseaseClass"},{"id":"T8","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Corpus-GPT5-noguidelines","denotations":[{"id":"T1","span":{"begin":35,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":101,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":287,"end":289},"obj":"Modifier"},{"id":"T7","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":321,"end":341},"obj":"DiseaseClass"},{"id":"T9","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Corpus-GPT5-guidelineprompt","denotations":[{"id":"T1","span":{"begin":35,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":101,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":321,"end":341},"obj":"DiseaseClass"},{"id":"T8","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Corpus-Moderated1","denotations":[{"id":"T1","span":{"begin":35,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":101,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":321,"end":341},"obj":"DiseaseClass"},{"id":"T8","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":100},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":101,"end":225},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":226,"end":342},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":343,"end":586},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":587,"end":769},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":770,"end":844},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":845,"end":1030},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":100},"obj":"Sentence"},{"id":"T2","span":{"begin":101,"end":225},"obj":"Sentence"},{"id":"T3","span":{"begin":226,"end":342},"obj":"Sentence"},{"id":"T4","span":{"begin":343,"end":586},"obj":"Sentence"},{"id":"T5","span":{"begin":587,"end":769},"obj":"Sentence"},{"id":"T6","span":{"begin":770,"end":844},"obj":"Sentence"},{"id":"T7","span":{"begin":845,"end":1030},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":214,"end":224},"obj":"HP:0001287"},{"id":"AB2","span":{"begin":301,"end":311},"obj":"HP:0001287"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":200,"end":224},"obj":"ORDO:33475"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":35,"end":69},"obj":"SpecificDisease:OMIM:612446"},{"id":"T2","span":{"begin":101,"end":135},"obj":"SpecificDisease:OMIM:612446"},{"id":"T3","span":{"begin":137,"end":140},"obj":"SpecificDisease:OMIM:612446"},{"id":"T4","span":{"begin":200,"end":224},"obj":"SpecificDisease:D008585"},{"id":"T5","span":{"begin":273,"end":276},"obj":"SpecificDisease:OMIM:612446"},{"id":"T6","span":{"begin":301,"end":311},"obj":"SpecificDisease:D008581"},{"id":"T7","span":{"begin":321,"end":341},"obj":"SpecificDisease:D016870"},{"id":"T8","span":{"begin":721,"end":724},"obj":"SpecificDisease:OMIM:612446"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Test","denotations":[{"id":"T278","span":{"begin":35,"end":69},"obj":"SpecificDisease"},{"id":"T279","span":{"begin":101,"end":135},"obj":"SpecificDisease"},{"id":"T280","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T281","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T282","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T283","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T284","span":{"begin":321,"end":341},"obj":"SpecificDisease"},{"id":"T285","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"attributes":[{"id":"A278","pred":"database_id","subj":"T278","obj":"OMIM:612446"},{"id":"A279","pred":"database_id","subj":"T279","obj":"OMIM:612446"},{"id":"A280","pred":"database_id","subj":"T280","obj":"OMIM:612446"},{"id":"A281","pred":"database_id","subj":"T281","obj":"D008585"},{"id":"A282","pred":"database_id","subj":"T282","obj":"OMIM:612446"},{"id":"A283","pred":"database_id","subj":"T283","obj":"D008581"},{"id":"A284","pred":"database_id","subj":"T284","obj":"D016870"},{"id":"A285","pred":"database_id","subj":"T285","obj":"OMIM:612446"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Test-Assistant-Knowledge","denotations":[{"id":"T1","span":{"begin":122,"end":141},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":321,"end":341},"obj":"DiseaseClass"},{"id":"T6","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Test-4o-NoGuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":56,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":122,"end":141},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":321,"end":341},"obj":"DiseaseClass"},{"id":"T7","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Corpus-o3-2","denotations":[{"id":"T1","span":{"begin":35,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":101,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":321,"end":341},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Corpus-high-o3-1","denotations":[{"id":"T1","span":{"begin":29,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":101,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":321,"end":341},"obj":"DiseaseClass"},{"id":"T8","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Corpus-high-o3-2","denotations":[{"id":"T1","span":{"begin":35,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":101,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Test-4o-GuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":56,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":122,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":321,"end":341},"obj":"Modifier"},{"id":"T7","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Corpus-UpdatedGuideline","denotations":[{"id":"T1","span":{"begin":35,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":101,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":321,"end":341},"obj":"DiseaseClass"},{"id":"T8","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Corpus-humanintheloop","denotations":[{"id":"T1","span":{"begin":56,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":122,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Corpus-rezarta1","denotations":[{"id":"T1","span":{"begin":35,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":101,"end":141},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T278","span":{"begin":35,"end":69},"obj":"SpecificDisease"},{"id":"T279","span":{"begin":101,"end":135},"obj":"SpecificDisease"},{"id":"T280","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T281","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T282","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T283","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T284","span":{"begin":321,"end":341},"obj":"SpecificDisease"},{"id":"T285","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"attributes":[{"id":"A278","pred":"database_id","subj":"T278","obj":"OMIM:612446"},{"id":"A279","pred":"database_id","subj":"T279","obj":"OMIM:612446"},{"id":"A280","pred":"database_id","subj":"T280","obj":"OMIM:612446"},{"id":"A281","pred":"database_id","subj":"T281","obj":"D008585"},{"id":"A282","pred":"database_id","subj":"T282","obj":"OMIM:612446"},{"id":"A283","pred":"database_id","subj":"T283","obj":"D008581"},{"id":"A284","pred":"database_id","subj":"T284","obj":"D016870"},{"id":"A285","pred":"database_id","subj":"T285","obj":"OMIM:612446"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":56,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":122,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":321,"end":341},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":35,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":101,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":56,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":122,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":301,"end":311},"obj":"Modifier"},{"id":"T6","span":{"begin":321,"end":341},"obj":"Modifier"},{"id":"T7","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":56,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":101,"end":141},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":321,"end":341},"obj":"DiseaseClass"},{"id":"T7","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"123456","denotations":[{"id":"T1","span":{"begin":56,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":122,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":301,"end":311},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}

{"project":"12345","denotations":[{"id":"T1","span":{"begin":35,"end":69},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":101,"end":135},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":137,"end":140},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":200,"end":224},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":273,"end":276},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":301,"end":311},"obj":"DiseaseClass"},{"id":"T7","span":{"begin":321,"end":341},"obj":"DiseaseClass"},{"id":"T8","span":{"begin":721,"end":724},"obj":"SpecificDisease"}],"text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father."}