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Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).

BACKGROUND: Acute intermittent porphyria (AIP), an autosomal dominant inborn error, results from the half-normal activity of the heme biosynthetic enzyme hydroxymethylbilane synthase (EC 4.3.1.8; HMB-synthase). This disease is characterized by acute, life-threatening neurologic attacks that are prec...

詳細記述

保存先:
書誌詳細
主要な著者: Solis, C., Lopez-Echaniz, I., Sefarty-Graneda, D., Astrin, K. H., Desnick, R. J.
フォーマット: Artigo
言語:Inglês
出版事項: The Feinstein Institute for Medical Research 1999
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2230478/
https://ncbi.nlm.nih.gov/pubmed/10602775
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