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Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population

BACKGROUND: 3-Hydroxy-3-Methylglutaric aciduria (3HMG, McKusick: 246450) is an autosomal recessive branched chain organic aciduria caused by deficiency of the enzyme 3-Hydroxy-3-Methylglutaryl CoA lyase (HL, HMGCL, EC 4.1.3.4). HL is encoded by HMGCL gene and many mutations have been reported. 3HMG...

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Detalles Bibliográficos
Autores principales:	Al-Sayed, Moeenaldeen, Imtiaz, Faiqa, Alsmadi, Osama A, Rashed, Mohammed S, Meyer, Brian F
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2006
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1764877/ https://www.ncbi.nlm.nih.gov/pubmed/17173698 http://dx.doi.org/10.1186/1471-2350-7-86

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