Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

Multiple morphological abnormalities of the sperm flagella (MMAF) is a cause of male infertility. Here the authors identify homozygous nonsense mutations of the glutamine rich 2 (QRICH2) gene in two MMAF patients from 2 consanguineous families and show using QRICH2 knockout mice that the protein is...

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Autores principales:	Ying Shen, Feng Zhang, Fuping Li, Xiaohui Jiang, Yihong Yang, Xiaoliang Li, Weiyu Li, Xiang Wang, Juan Cheng, Mohan Liu, Xueguang Zhang, Guiping Yuan, Xue Pei, Kailai Cai, Fengyun Hu, Jianfeng Sun, Lanzhen Yan, Li Tang, Chuan Jiang, Wenling Tu, Jinyan Xu, Haojuan Wu, Weiqi Kong, Shuying Li, Ke Wang, Kai Sheng, Xudong Zhao, Huanxun Yue, Xiaoyu Yang, Wenming Xu
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/7f434c531ab1482fa370de4f562ac05c
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Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

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