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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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書誌詳細
主要な著者: Haraguchi, Y, Aparicio, J M, Takiguchi, M, Akaboshi, I, Yoshino, M, Mori, M, Matsuda, I
フォーマット: Artigo
言語:Inglês
出版事項: 1990
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC296728/
https://ncbi.nlm.nih.gov/pubmed/2365823
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