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Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia

BACKGROUND: The genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear. METHODS: Two Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with id...

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Detalles Bibliográficos
Autores principales: Yao, Chencheng, Yang, Chao, Zhao, Liangyu, Li, Peng, Tian, Ruhui, Chen, Huixing, Guo, Ying, Huang, Yuhua, Zhi, Erlei, Zhai, Jing, Sun, Hongfang, Zhang, Jianxiong, Hong, Yan, Zhang, Li, Ji, Zhiyong, Zhang, Feng, Zhou, Zhi, Li, Zheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8479749/
https://www.ncbi.nlm.nih.gov/pubmed/32900840
http://dx.doi.org/10.1136/jmedgenet-2020-107042