Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.

Maple Syrup Urine Disease (MSUD) in Mennonites is associated with homozygosity for a T to A transversion in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex. This causes a tyrosine to asparagine substitution at position 393 (Y393N). To assess the functional significance...

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Detaylı Bibliyografya
Yayımlandı:J Clin Invest
Asıl Yazarlar: Fisher, C R, Chuang, J L, Cox, R P, Fisher, C W, Star, R A, Chuang, D T
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Clinical Investigation 1991
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295513/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1885764/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115363
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