PubMed:6826539 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":63},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":64,"end":180},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":181,"end":251},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":252,"end":343},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":344,"end":496},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":63},"obj":"Sentence"},{"id":"T2","span":{"begin":64,"end":180},"obj":"Sentence"},{"id":"T3","span":{"begin":181,"end":251},"obj":"Sentence"},{"id":"T4","span":{"begin":252,"end":343},"obj":"Sentence"},{"id":"T5","span":{"begin":344,"end":496},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Structural analysis of a beta-thalassemia gene found in Taiwan.\nThe beta-globin gene from a patient with homozygous beta-thalassemia in Taiwan was cloned and extensively sequenced. Four nucleotides in the codon for amino acids, 41 and 42, are deleted. This change generates a frame-shift mutation and a termination codon in the new 59th codon. Some changes in nucleotide sequence were also found in intervening sequences IVS1 and IVS2, and Exon3, and were considered to be sequence polymorphisms."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":68,"end":79},"obj":"gene:3043"},{"id":"T1","span":{"begin":105,"end":132},"obj":"disease:C0002875"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Structural analysis of a beta-thalassemia gene found in Taiwan.\nThe beta-globin gene from a patient with homozygous beta-thalassemia in Taiwan was cloned and extensively sequenced. Four nucleotides in the codon for amino acids, 41 and 42, are deleted. This change generates a frame-shift mutation and a termination codon in the new 59th codon. Some changes in nucleotide sequence were also found in intervening sequences IVS1 and IVS2, and Exon3, and were considered to be sequence polymorphisms."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"6826539-1#4#15#gene3043","span":{"begin":68,"end":79},"obj":"gene3043"},{"id":"6826539-1#41#68#diseaseC0002875","span":{"begin":105,"end":132},"obj":"diseaseC0002875"}],"relations":[{"id":"4#15#gene304341#68#diseaseC0002875","pred":"associated_with","subj":"6826539-1#4#15#gene3043","obj":"6826539-1#41#68#diseaseC0002875"}],"text":"Structural analysis of a beta-thalassemia gene found in Taiwan.\nThe beta-globin gene from a patient with homozygous beta-thalassemia in Taiwan was cloned and extensively sequenced. Four nucleotides in the codon for amino acids, 41 and 42, are deleted. This change generates a frame-shift mutation and a termination codon in the new 59th codon. Some changes in nucleotide sequence were also found in intervening sequences IVS1 and IVS2, and Exon3, and were considered to be sequence polymorphisms."}

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":158,"end":169},"obj":"http://purl.obolibrary.org/obo/UBERON_2000106"}],"text":"Structural analysis of a beta-thalassemia gene found in Taiwan.\nThe beta-globin gene from a patient with homozygous beta-thalassemia in Taiwan was cloned and extensively sequenced. Four nucleotides in the codon for amino acids, 41 and 42, are deleted. This change generates a frame-shift mutation and a termination codon in the new 59th codon. Some changes in nucleotide sequence were also found in intervening sequences IVS1 and IVS2, and Exon3, and were considered to be sequence polymorphisms."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":25,"end":41},"obj":"ORDO:848"},{"id":"AB1","span":{"begin":116,"end":132},"obj":"ORDO:848"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Structural analysis of a beta-thalassemia gene found in Taiwan.\nThe beta-globin gene from a patient with homozygous beta-thalassemia in Taiwan was cloned and extensively sequenced. Four nucleotides in the codon for amino acids, 41 and 42, are deleted. This change generates a frame-shift mutation and a termination codon in the new 59th codon. Some changes in nucleotide sequence were also found in intervening sequences IVS1 and IVS2, and Exon3, and were considered to be sequence polymorphisms."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":158,"end":169},"obj":"http://purl.obolibrary.org/obo/UBERON_2000106"}],"text":"Structural analysis of a beta-thalassemia gene found in Taiwan.\nThe beta-globin gene from a patient with homozygous beta-thalassemia in Taiwan was cloned and extensively sequenced. Four nucleotides in the codon for amino acids, 41 and 42, are deleted. This change generates a frame-shift mutation and a termination codon in the new 59th codon. Some changes in nucleotide sequence were also found in intervening sequences IVS1 and IVS2, and Exon3, and were considered to be sequence polymorphisms."}

{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":25,"end":41},"obj":"Disease"},{"id":"T2","span":{"begin":116,"end":132},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0013517"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0013517"}],"text":"Structural analysis of a beta-thalassemia gene found in Taiwan.\nThe beta-globin gene from a patient with homozygous beta-thalassemia in Taiwan was cloned and extensively sequenced. Four nucleotides in the codon for amino acids, 41 and 42, are deleted. This change generates a frame-shift mutation and a termination codon in the new 59th codon. Some changes in nucleotide sequence were also found in intervening sequences IVS1 and IVS2, and Exon3, and were considered to be sequence polymorphisms."}

{"project":"NCBITAXON","denotations":[{"id":"T1","span":{"begin":92,"end":99},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"9606"}],"text":"Structural analysis of a beta-thalassemia gene found in Taiwan.\nThe beta-globin gene from a patient with homozygous beta-thalassemia in Taiwan was cloned and extensively sequenced. Four nucleotides in the codon for amino acids, 41 and 42, are deleted. This change generates a frame-shift mutation and a termination codon in the new 59th codon. Some changes in nucleotide sequence were also found in intervening sequences IVS1 and IVS2, and Exon3, and were considered to be sequence polymorphisms."}