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PubMed:10466420 JSONTXT 18 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-119 Sentence denotes Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.
T1 0-119 Sentence denotes Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.
TextSentencer_T2 120-207 Sentence denotes Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems.
T2 120-207 Sentence denotes Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems.
TextSentencer_T3 208-452 Sentence denotes We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia.
T3 208-452 Sentence denotes We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia.
TextSentencer_T4 453-686 Sentence denotes The diagnosis was clarified by molecular analysis of the DTDST gene, which revealed homozygosity for a previously undescribed mutation leading to a Q454P substitution in the 10th transmembrane domain of the DTDST sulfate transporter.
T4 453-686 Sentence denotes The diagnosis was clarified by molecular analysis of the DTDST gene, which revealed homozygosity for a previously undescribed mutation leading to a Q454P substitution in the 10th transmembrane domain of the DTDST sulfate transporter.
TextSentencer_T5 687-756 Sentence denotes Molecular analysis may be of particular value in such atypical cases.
T5 687-756 Sentence denotes Molecular analysis may be of particular value in such atypical cases.