Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria

Abstract Background We sought to analyse MMACHC variants among 126 pedigrees with cobalamin (cbl) C deficiency and combined methylmalonic aciduria and homocystinuria by Sanger sequencing, characterize the spectrum of MMACHC gene variants, and perform prenatal genetic diagnosis by chorionic villus sa...

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Egile Nagusiak:	Shuang Hu, Shiyue Mei, Ning Liu, Xiangdong Kong
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	BMC 2018-08-01
Saila:	BMC Medical Genetics
Gaiak:	Combined methylmalonic aciduria and homocystinuria MMACHC cblC Variant Prenatal genetic diagnosis
Sarrera elektronikoa:	http://link.springer.com/article/10.1186/s12881-018-0666-x
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