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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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Detalles Bibliográficos
Publicado en: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
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2018
Assuntos:
Acceso en liña: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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