Načítá se…
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...
Hlavní autoři: | , , , |
---|---|
Médium: | Online Článek Text |
Jazyk: | English |
Vydáno: |
BioMed Central
2018
|
Témata: | |
On-line přístup: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116561/ https://www.ncbi.nlm.nih.gov/pubmed/30157807 http://dx.doi.org/10.1186/s12881-018-0666-x |