Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees

ConclusionOur study, in which compound heterozygous variants were identified in two pedigrees, provides more familial evidence that only recessive variants (homozygous or compound heterozygous) inCFTR cause CBAVD. Furthermore, whole exome sequencing may be utilized as a useful tool for mutation screening of genes causing CBAVD.

Source: Molecular Genetics & Genomic Medicine - November 18, 2018 Category: Genetics & Stem Cells Authors: Bin Yang, Xi Wang, Wei Zhang, Hongjun Li, Binbin Wang Tags: ORIGINAL ARTICLE Source Type: research