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PubMed:1352287 JSONTXT

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PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 408-423 ORDO:63 denotes Alport syndrome
TI1 193-208 ORDO:63 denotes Alport syndrome
AB2 865-880 ORDO:63 denotes Alport syndrome

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-217 Sentence denotes Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.
TextSentencer_T2 218-424 Sentence denotes We have generated and characterized cDNA clones providing the complete amino acid sequence of the human type IV collagen chain whose gene has been shown to be mutated in X chromosome-linked Alport syndrome.
TextSentencer_T3 425-486 Sentence denotes The entire translation product has 1,685 amino acid residues.
TextSentencer_T4 487-733 Sentence denotes There is a 26-residue signal peptide, a 1,430-residue collagenous domain starting with a 14-residue noncollagenous sequence, and a Gly-Xaa-Yaa-repeat sequence interrupted at 22 locations, and a 229-residue carboxyl-terminal noncollagenous domain.
TextSentencer_T5 734-809 Sentence denotes The calculated molecular weight of the mature alpha 5(IV) chain is 158,303.
TextSentencer_T6 810-985 Sentence denotes Analysis of genomic DNA from members of a kindred with Alport syndrome revealed a new HindIII cleavage site within the coding sequence of one of the cDNA clones characterized.
TextSentencer_T7 986-1134 Sentence denotes The proband had a new 1.25-kilobase HindIII fragment and a lack of a 1.35-kilobase fragment, and his mildly affected female cousin had both alleles.
TextSentencer_T8 1135-1296 Sentence denotes The mutation which was located to exon 23 was sequenced from a polymerase chain reaction-amplified product, and shown to be a G----T change in the coding strand.
TextSentencer_T9 1297-1359 Sentence denotes The mutation changed the GGT codon of glycine 521 to cysteine.
TextSentencer_T10 1360-1423 Sentence denotes The same mutation was found in one allele of the female cousin.
TextSentencer_T11 1424-1493 Sentence denotes The results were confirmed by allele-specific hybridization analyses.
T1 0-217 Sentence denotes Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.
T2 218-424 Sentence denotes We have generated and characterized cDNA clones providing the complete amino acid sequence of the human type IV collagen chain whose gene has been shown to be mutated in X chromosome-linked Alport syndrome.
T3 425-486 Sentence denotes The entire translation product has 1,685 amino acid residues.
T4 487-733 Sentence denotes There is a 26-residue signal peptide, a 1,430-residue collagenous domain starting with a 14-residue noncollagenous sequence, and a Gly-Xaa-Yaa-repeat sequence interrupted at 22 locations, and a 229-residue carboxyl-terminal noncollagenous domain.
T5 734-809 Sentence denotes The calculated molecular weight of the mature alpha 5(IV) chain is 158,303.
T6 810-985 Sentence denotes Analysis of genomic DNA from members of a kindred with Alport syndrome revealed a new HindIII cleavage site within the coding sequence of one of the cDNA clones characterized.
T7 986-1134 Sentence denotes The proband had a new 1.25-kilobase HindIII fragment and a lack of a 1.35-kilobase fragment, and his mildly affected female cousin had both alleles.
T8 1135-1296 Sentence denotes The mutation which was located to exon 23 was sequenced from a polymerase chain reaction-amplified product, and shown to be a G----T change in the coding strand.
T9 1297-1359 Sentence denotes The mutation changed the GGT codon of glycine 521 to cysteine.
T10 1360-1423 Sentence denotes The same mutation was found in one allele of the female cousin.
T11 1424-1493 Sentence denotes The results were confirmed by allele-specific hybridization analyses.

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 193-208 Disease denotes Alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965
T2 408-423 Disease denotes Alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965
T3 865-880 Disease denotes Alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 36-41 OrganismTaxon denotes human 9606
T2 137-144 OrganismTaxon denotes glycine 3846
T3 209-216 OrganismTaxon denotes patient 9606
T4 316-321 OrganismTaxon denotes human 9606
T5 1335-1342 OrganismTaxon denotes glycine 3846

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 390-400 Body_part denotes chromosome http://purl.obolibrary.org/obo/GO_0005694