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PubMed:7874117 JSONTXT 14 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-104 Sentence denotes A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
T1 0-104 Sentence denotes A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
TextSentencer_T2 105-241 Sentence denotes Kniest dysplasia is a moderately severe chondrodysplasia phenotype that results from mutations in the gene for type II collagen, COL2A1.
T2 105-241 Sentence denotes Kniest dysplasia is a moderately severe chondrodysplasia phenotype that results from mutations in the gene for type II collagen, COL2A1.
TextSentencer_T3 242-393 Sentence denotes Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.
T3 242-393 Sentence denotes Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.
TextSentencer_T4 394-614 Sentence denotes Recently, deletions of all or part of exon 12 have been identified in individuals with Kniest dysplasia, suggesting that mutations within this region of the protein may primarily result in the Kniest dysplasia phenotype.
T4 394-614 Sentence denotes Recently, deletions of all or part of exon 12 have been identified in individuals with Kniest dysplasia, suggesting that mutations within this region of the protein may primarily result in the Kniest dysplasia phenotype.
TextSentencer_T5 615-737 Sentence denotes We used SSCP to analyze an amplified genomic DNA fragment containing exon 12 from seven individuals with Kniest dysplasia.
T5 615-737 Sentence denotes We used SSCP to analyze an amplified genomic DNA fragment containing exon 12 from seven individuals with Kniest dysplasia.
TextSentencer_T6 738-783 Sentence denotes An abnormality was identified in one patient.
T6 738-783 Sentence denotes An abnormality was identified in one patient.
TextSentencer_T7 784-959 Sentence denotes DNA sequence analysis demonstrated that the patient was heterozygous for a G to A transition that implied substitution of glycine103 of the triple helical domain by aspartate.
T7 784-959 Sentence denotes DNA sequence analysis demonstrated that the patient was heterozygous for a G to A transition that implied substitution of glycine103 of the triple helical domain by aspartate.
TextSentencer_T8 960-1061 Sentence denotes The mutation was not observed in DNA from either of the clinically unaffected parents of the proband.
T8 960-1061 Sentence denotes The mutation was not observed in DNA from either of the clinically unaffected parents of the proband.
TextSentencer_T9 1062-1146 Sentence denotes Protein microsequencing demonstrated expression of the abnormal allele in cartilage.
T9 1062-1146 Sentence denotes Protein microsequencing demonstrated expression of the abnormal allele in cartilage.
TextSentencer_T10 1147-1433 Sentence denotes These data demonstrate that point mutations which result in single amino acid substitutions can produce Kniest dysplasia and further support the hypothesis that alteration of a domain, which includes the region encoded by exon 12, in the type II collagen protein leads to this disorder.
T10 1147-1433 Sentence denotes These data demonstrate that point mutations which result in single amino acid substitutions can produce Kniest dysplasia and further support the hypothesis that alteration of a domain, which includes the region encoded by exon 12, in the type II collagen protein leads to this disorder.