Article
Whole-exome sequencing of a large Chinese azoospermia and severe oligospermia cohort identifies novel infertility causative variants and genes.
Human molecular genetics - 11 Aug 2020
Chen Shitao, Wang Guishuan, Zheng Xiaoguo, Ge Shunna, Dai Yubing, Ping Ping, Chen Xiangfeng, Liu Guihua, Zhang Jing, Yang Yang, Zhang Xinzong, Zhong An, Zhu Yongtong, Chu Qingjun, Huang Yonghan, Zhang Yong, Shen Changli, Yuan Yiming, Yuan Qilong, Pei Xiuying, Cheng C Yan, Sun Fei
Abstract excerpt
Rare coding variants have been proven to be one of the significant factors contributing to spermatogenic failure in patients with non-obstructive azoospermia (NOA) and severe oligospermia (SO). To delineate the molecular characteristics of idiopathic NOA and SO, we performed whole-exome sequencing of 314 unrelated patients of Chinese Han origin and verified our findings by comparing to 400 fertile controls. We...
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