The detection and significance of cystic fibrosis transmembrane conductance regulator gene promoter mutations in Chinese patients with congenital bilateral absence of the vas deferens.

CONCLUSION: Mutations in the promoter region of the CFTR gene in Chinese CBAVD patients are different from those found in comparable Caucasian patients. The homozygous c.-966 T > G mutation state had the highest frequency, which reduced the CFTR transcriptional level and showed significant tissue-specificity. PMID: 29864494 [PubMed - as supplied by publisher]
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research