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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Detalles Bibliográficos
Autores principales: Tabbouche, Omar, Saker, Amer, Mountain, Harry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121290/
https://www.ncbi.nlm.nih.gov/pubmed/27896100
http://dx.doi.org/10.1016/j.ymgmr.2014.03.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121290/
https://www.ncbi.nlm.nih.gov/pubmed/27896100
http://dx.doi.org/10.1016/j.ymgmr.2014.03.005

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