Identification of three novel mutations by studying the molecular genetics of Maple Syrup Urine Disease (MSUD) in the Lebanese population

Maple Syrup Urine Disease (MSUD) is a genetically heterogeneous metabolic disorder that is transmitted in an autosomal recessive manner. According to clinical data, MSUD prevalence in Lebanon is expected to be higher than the International prevalence because of consanguineous marriage. Novel mutatio...

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Auteurs principaux:	Omar Tabbouche, Amer Saker, Harry Mountain
Format:	Artigo
Langue:	Inglês
Publié:	Elsevier 2014-01-01
Collection:	Molecular Genetics and Metabolism Reports
Sujets:	Maple Syrup Urine Disease MSUD Mutation Lebanon Lebanese population Lebanon MSUD MSUD novel mutations
Accès en ligne:	http://www.sciencedirect.com/science/article/pii/S2214426914000287
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