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Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.

Isovaleric acidemia (IVA) is an inborn error of leucine metabolism and is caused by a genetically determined deficiency of isovaleryl-CoA dehydrogenase (IVD), a mitochondrial matrix enzyme. IVD is produced as a 45-kDa precursor and then is transported into the mitochondria, where it is processed to...

詳細記述

保存先:
書誌詳細
主要な著者: Vockley, J, Parimoo, B, Tanaka, K
フォーマット: Artigo
言語:Inglês
出版事項: 1991
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683224/
https://ncbi.nlm.nih.gov/pubmed/2063866
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