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PubMed:10076877 JSONTXT 12 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-180 Sentence denotes Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).
T1 0-180 Sentence denotes Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).
TextSentencer_T2 181-550 Sentence denotes In order to test the hypothesis that long-chain L 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency is associated with the lipid myopathy and muscle carnitine deficiency observed in Bannayan-Riley-Ruvalcaba syndrome (BRRS), we studied the enzyme activity in cultured skin fibroblasts from three generations of a family with a clear dominant inheritance of BRRS.
T2 181-550 Sentence denotes In order to test the hypothesis that long-chain L 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency is associated with the lipid myopathy and muscle carnitine deficiency observed in Bannayan-Riley-Ruvalcaba syndrome (BRRS), we studied the enzyme activity in cultured skin fibroblasts from three generations of a family with a clear dominant inheritance of BRRS.
TextSentencer_T3 551-665 Sentence denotes Enzyme activities were normal while the germline PTEN missense mutation P246L segregated with BRRS in this family.
T3 551-665 Sentence denotes Enzyme activities were normal while the germline PTEN missense mutation P246L segregated with BRRS in this family.
TextSentencer_T4 666-755 Sentence denotes No PTEN mutations were identified in the original patient with BRRS and LCHAD deficiency.
T4 666-755 Sentence denotes No PTEN mutations were identified in the original patient with BRRS and LCHAD deficiency.
TextSentencer_T5 756-961 Sentence denotes These data suggest that the previously reported case of LCHAD and BRRS either represents the coincidental concurrence of two rare genetic events or that a gene other than PTEN is related to LCHAD and BRRS.
T5 756-961 Sentence denotes These data suggest that the previously reported case of LCHAD and BRRS either represents the coincidental concurrence of two rare genetic events or that a gene other than PTEN is related to LCHAD and BRRS.