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

โœ Scribed by Tabbouche, Omar (author);Saker, Amer (author);Mountain, Harry (author)


Book ID
125797278
Publisher
Elsevier Inc.
Year
2014
Tongue
English
Weight
634 KB
Volume
1
Category
Article
ISSN
2214-4269

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Identification of three novel mutations
โœ Tabbouche, Omar (author);Saker, Amer (author);Mountain, Harry (author) ๐Ÿ“‚ Article ๐Ÿ“… 2014 ๐Ÿ› Elsevier Inc. ๐ŸŒ English โš– 634 KB

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