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

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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Bibliographic Details
Main Authors: Shuang Hu, Shiyue Mei, Ning Liu, Xiangdong Kong
Format: Article
Language:English
Published: BMC 2018-08-01
Series:BMC Medical Genetics
Subjects:
Combined methylmalonic aciduria and homocystinuria
MMACHC
cblC
Variant
Prenatal genetic diagnosis
Online Access:http://link.springer.com/article/10.1186/s12881-018-0666-x

Internet

http://link.springer.com/article/10.1186/s12881-018-0666-x

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