Article
[Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 18 Oct 2024
Tang Ying, Zhang Yongbo, Wu Danhong, Lin Yanhong, Lan Fenghua
Abstract excerpt
OBJECTIVE: To detect the cystic fibrosis transmembrane transduction regulator (CFTR) gene mutations and congenital bilateral absence of vas deferens (CBAVD) susceptibility gene mutations in patients with CBAVD, and to explore their association with the risk of CBAVD. METHODS: Whole-exome sequencing and Sanger sequencing validation were conducted on the pathogenic genes CFTR, adhesion G protein-coupled receptor G2...
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