Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice

Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenoteratozoospermia. Although recent studies have revealed several MMAF-associated genes and demonstrated MMAF to be a genetically heterogeneous disease, at least one-third of the cases are still not well under...

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書誌詳細
出版年:Am J Hum Genet
主要な著者: He, Xiaojin, Liu, Chunyu, Yang, Xiaoyu, Lv, Mingrong, Ni, Xiaoqing, Li, Qiang, Cheng, Huiru, Liu, Wangjie, Tian, Shixiong, Wu, Huan, Gao, Yang, Yang, Chenyu, Tan, Qing, Cong, Jiangshan, Tang, Dongdong, Zhang, Jingjing, Song, Bing, Zhong, Yading, Li, Hang, Zhi, Weiwei, Mao, Xiaohong, Fu, Feifei, Ge, Lei, Shen, Qunshan, Zhang, Manyu, Saiyin, Hexige, Jin, Li, Xu, Yuping, Zhou, Ping, Wei, Zhaolian, Zhang, Feng, Cao, Yunxia
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2020
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7477015/
https://ncbi.nlm.nih.gov/pubmed/32791035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.07.010
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