Article
MBOAT1 homozygous missense variant causes nonobstructive azoospermia.
Asian journal of andrology - 1 Jan 2000
Wan Yang-Yang, Guo Lan, Yao Yao, Shi Xiao-Yun, Jiang Hui, Xu Bo, Hua Juan, Zhang Xian-Sheng
Abstract excerpt
Nonobstructive azoospermia (NOA) is a common cause of infertility and is defined as the complete absence of sperm in ejaculation due to defective spermatogenesis. The aim of this study was to identify the genetic etiology of NOA in an infertile male from a Chinese consanguineous family. A homozygous missense variant of the membrane-bound O-acyltransferase domain-containing 1 (MBOAT1) gene (c.770C>T, p.Thr257Met)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
