Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.

Argininemia is caused by a hereditary deficiency of liver-type arginase (E.C.3.5.3.1) and is characterized by psychomotor retardation and spastic tetraplegia. We examined findings in three Japanese patients with argininemia, by using the PCR, cloning, and sequencing procedures. We found three differ...

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Detalhes bibliográficos
Main Authors: Uchino, T, Haraguchi, Y, Aparicio, J M, Mizutani, N, Higashikawa, M, Naitoh, H, Mori, M, Matsuda, I
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682900/
https://ncbi.nlm.nih.gov/pubmed/1463019
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