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Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.

Ornithine transcarbamylase (OTC) is an X-linked, liver-specific enzyme that catalyzes the second step of the urea cycle. In humans, inherited deficiency of OTC in hemizygous affected males usually results in severe ammonia intoxication and early death. To characterize mutations responsible for OTC d...

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Detalhes bibliográficos
Main Authors: Carstens, R P, Fenton, W A, Rosenberg, L R
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683104/
https://ncbi.nlm.nih.gov/pubmed/2035531
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