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Article

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

Asian journal of andrology - 1 Jan 2000

Hou Jian-Wen, Li Xiao-Liang, Wang Li, Dai Cong-Ling, Li Na, Jiang Xiao-Hui, Tan Yue-Qiu, Tian Er-Po, Li Qin-Tong, Xu Wen-Ming

Abstract excerpt

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 CFTR mutations or impaired CFTR expression is increased in men with nonobstructive azoospermia (NOA). CFTR...

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Share to Cystic Fibrosis Transmembrane Conductance Regulator
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35665694
DOI: 10.4103/aja202236
PMCID: PMC9933970

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Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis.PMID 35665694Read ↗

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