Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene

Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene

Abstract Background CHKB mutations have been described in 49 patients with megaconial congenital muscular dystrophy, which is a rare autosomal recessive disorder, of which 40 patients showed homozygosity. Methods Peripheral blood genomic DNA samples were extracted from patients and their parents and...

Full description

Bibliographic Details
Main Authors: Tenghui Wu, Ciliu Zhang, Fang He, Li Yang, Fei Yin, Jing Peng
Format: Article
Language:English
Published: Wiley 2023-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CHKB
large deletions
megaconial congenital muscular dystrophy
uniparental disomy
Online Access:https://doi.org/10.1002/mgg3.2162

Similar Items

Similar Items