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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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Detaylı Bibliyografya
Asıl Yazarlar: Uchino, T, Haraguchi, Y, Aparicio, J M, Mizutani, N, Higashikawa, M, Naitoh, H, Mori, M, Matsuda, I
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1992
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682900/
https://ncbi.nlm.nih.gov/pubmed/1463019
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