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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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Bibliografiske detaljer
Udgivet i:Mol Genet Metab Rep
Main Authors: Tabbouche, Omar, Saker, Amer, Mountain, Harry
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121290/
https://ncbi.nlm.nih.gov/pubmed/27896100
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.03.005
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