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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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Haraguchi, Y, Aparicio, J M, Takiguchi, M, Akaboshi, I, Yoshino, M, Mori, M, Matsuda, I
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1990
Assuntos:
Research Article
Acesso em linha: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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