Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene.

Argininemia results from a deficiency of arginase (EC 3.5.3.1), the last enzyme of the urea cycle in the liver. We examined the molecular basis for argininemia by constructing a genomic library followed by cloning and DNA sequencing. Discrete mutations were found on two alleles from the patient, a p...

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Библиографические подробности

Опубликовано в::	J Clin Invest
Главные авторы:	Haraguchi, Y, Aparicio, J M, Takiguchi, M, Akaboshi, I, Yoshino, M, Mori, M, Matsuda, I
Формат:	Artigo
Язык:	Inglês
Опубликовано:	American Society for Clinical Investigation 1990
Предметы:	Research Article
Online-ссылка:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296728/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2365823/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114707
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