A DNAH17 missense variant causes flagella destabilization and asthenozoospermia

Asthenozoospermia is a common cause of male infertility, but its etiology remains incompletely understood. We recruited three Pakistani infertile brothers, born to first-cousin parents, displaying idiopathic asthenozoospermia but no ciliary-related symptoms. Whole-exome sequencing identified a misse...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:J Exp Med
المؤلفون الرئيسيون: Zhang, Beibei, Ma, Hui, Khan, Teka, Ma, Ao, Li, Tao, Zhang, Huan, Gao, Jianing, Zhou, Jianteng, Li, Yang, Yu, Changping, Bao, Jianqiang, Ali, Asim, Murtaza, Ghulam, Yin, Hao, Gao, Qian, Jiang, Xiaohua, Zhang, Feng, Liu, Chunyu, Khan, Ihsan, Zubair, Muhammad, Hussain, Hafiz Muhammad Jafar, Khan, Ranjha, Yousaf, Ayesha, Yuan, Limin, Lu, Yan, Xu, Xiaoling, Wang, Yun, Tao, Qizhao, Hao, Qiaomei, Fang, Hui, Cheng, Hongtao, Zhang, Yuanwei, Shi, Qinghua
التنسيق: Artigo
اللغة:Inglês
منشور في: Rockefeller University Press 2019
الموضوعات:
Research Articles
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC7041708/
https://ncbi.nlm.nih.gov/pubmed/31658987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20182365
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