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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9933970/
https://www.ncbi.nlm.nih.gov/pubmed/35665694
http://dx.doi.org/10.4103/aja202236

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9933970/
https://www.ncbi.nlm.nih.gov/pubmed/35665694
http://dx.doi.org/10.4103/aja202236

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