Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis

Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis

Congenital bilateral absence of the vas deferens (CBAVD) is observed in 1%–2% of males presenting with infertility and is clearly associated with cystic fibrosis transmembrane conductance regulator (CFTR) mutations. CFTR is one of the most well-known genes related to male fertility. The frequency of...

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Bibliographic Details
Main Authors: Jian-Wen Hou, Xiao-Liang Li, Li Wang, Cong-Ling Dai, Na Li, Xiao-Hui Jiang, Yue-Qiu Tan, Er-Po Tian, Qin-Tong Li, Wen-Ming Xu
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2023-01-01
Series:Asian Journal of Andrology
Subjects:
azoospermia; congenital bilateral absence of the vas deferens; cftr mutation; male infertility; spermatogenesis
Online Access:http://www.ajandrology.com/article.asp?issn=1008-682X;year=2023;volume=25;issue=1;spage=58;epage=65;aulast=Hou

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