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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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Vydáno v:Mol Genet Metab Rep
Hlavní autoři: Tabbouche, Omar, Saker, Amer, Mountain, Harry
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2014
Témata:
On-line přístup: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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