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New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

Ornithine transcarbamylase (OTC) (E.C.2.1.3.3) is an X-linked hepatic enzyme in the urea cycle necessary for ammonia detoxification. Deficiency of OTC results in neonatal hyperammonemia, coma, and death in childhood. Because fibroblasts do not express OTC, prenatal diagnosis in the past has required...

詳細記述

保存先:
書誌詳細
主要な著者: Nussbaum, R L, Boggs, B A, Beaudet, A L, Doyle, S, Potter, J L, O'Brien, W E
フォーマット: Artigo
言語:Inglês
出版事項: 1986
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684765/
https://ncbi.nlm.nih.gov/pubmed/3004207
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