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

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 a...

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Bibliografische gegevens
Gepubliceerd in:BMC Med Genet
Hoofdauteurs: Hu, Shuang, Mei, Shiyue, Liu, Ning, Kong, Xiangdong
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2018
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6116561/
https://ncbi.nlm.nih.gov/pubmed/30157807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0666-x
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