Biallelic mutations in

Autor: Shixiong, Tian, Chaofeng, Tu, Xiaojin, He, Lanlan, Meng, Jiaxiong, Wang, Shuyan, Tang, Yang, Gao, Chunyu, Liu, Huan, Wu, Yiling, Zhou, Mingrong, Lv, Ge, Lin, Li, Jin, Yunxia, Cao, Dongdong, Tang, Feng, Zhang, Yue-Qiu, Tan
Rok vydání: 2022
Zdroj: Journal of medical genetics.
ISSN: 1468-6244
Popis: Spermatogenic impairments can lead to male infertility by different pathological conditions, such as multiple morphological abnormalities of the sperm flagella (MMAF) and non-obstructive azoospermia (NOA). Genetic factors are involved in impaired spermatogenesis.Here, we performed genetic analyses through whole-exome sequencing in a cohort of 334 Han Chinese probands with severe MMAF or NOA. Biallelic variants ofOur genetic analyses and experimental observations revealed that biallelic deleterious mutations of
Databáze: OpenAIRE