Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome

Acephalic spermatozoa syndrome is a severe teratozoospermia that leads to male infertility. Our previous work showed that biallelic SUN5 mutations are responsible for acephalic spermatozoa syndrome in about half of affected individuals, while pathogenic mechanisms in the other individuals remain to...

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Udgivet i:Am J Hum Genet
Main Authors: Zhu, Fuxi, Liu, Chao, Wang, Fengsong, Yang, Xiaoyu, Zhang, Jingjing, Wu, Huan, Zhang, Zhiguo, He, Xiaojin, Zhang, Zhou, Zhou, Ping, Wei, Zhaolian, Shang, Yongliang, Wang, Lina, Zhang, Ruidan, Ouyang, Ying-Chun, Sun, Qing-Yuan, Cao, Yunxia, Li, Wei
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6080767/
https://ncbi.nlm.nih.gov/pubmed/30032984
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.06.010
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