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

29 Aug 2018

Abstract excerpt

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 sampling among these pedigrees. METHODS: Peripheral blood was collected from 126 probands and their parents who visited the...

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PMID: 30157807
DOI: 10.1186/s12881-018-0666-x

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