Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Congenital Bilateral Absence of the Vas Deferens
por: Cai, Zhonglin, et al.
Publicado: (2022) -
The role of CFTR p.G970D missense mutation in male infertility
por: Antonucci, Ivana, et al.
Publicado: (2022) -
Meta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens
por: Xu, Xuting, et al.
Publicado: (2014) -
CFTR gene variants in Indian congenital bilateral absence of vas deferens & its relevance in genetic counselling
por: Halder, Ashutosh, et al.
Publicado: (2020) -
SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens
por: Wu, Yi-No, et al.
Publicado: (2019)