Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.

Maple syrup urine disease (MSUD) is caused by a deficiency in the mitochondrial branched-chain alpha-keto acid dehydrogenase complex. The incidence of MSUD in the Philadelphia Mennonites is 1/176 births resulting from consanguinity. In this study, we amplified cDNAs for the decarboxylase E1 alpha su...

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Dades bibliogràfiques
Autors principals: Fisher, C R, Fisher, C W, Chuang, D T, Cox, R P
Format: Artigo
Idioma:Inglês
Publicat: 1991
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683290/
https://ncbi.nlm.nih.gov/pubmed/1867199
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