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Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC

BACKGROUND: Combined methylmalonic aciduria and homocystinuria, cobalamin(cbl)C deficiency, is a rare disorder of intracellular vitamin B(12)(cbl) metabolism caused by mutations in the MMACHC gene. Both genetic and biochemical approach have been established to diagnose children and fetuses with cblC...

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Detalles Bibliográficos
Autores principales:	Zong, Yanan, Liu, Ning, Zhao, Zhenhua, Kong, Xiangdong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557897/ https://www.ncbi.nlm.nih.gov/pubmed/26149271 http://dx.doi.org/10.1186/s12881-015-0196-8

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