Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest

Normal oocyte meiosis is a prerequisite for successful human reproduction, and abnormalities in the process will result in infertility. In 2016, we identified mutations in TUBB8 as responsible for human oocyte meiotic arrest. However, the underlying genetic factors for most affected individuals rema...

Szczegółowa specyfikacja

Zapisane w:
Opis bibliograficzny
Wydane w:Am J Hum Genet
Główni autorzy: Zhang, Zhihua, Li, Bin, Fu, Jing, Li, Rong, Diao, Feiyang, Li, Caihong, Chen, Biaobang, Du, Jing, Zhou, Zhou, Mu, Jian, Yan, Zheng, Wu, Ling, Liu, Shuai, Wang, Wenjing, Zhao, Lin, Dong, Jie, He, Lin, Liang, Xiaozhen, Kuang, Yanping, Sun, Xiaoxi, Sang, Qing, Wang, Lei
Format: Artigo
Język:Inglês
Wydane: Elsevier 2020
Hasła przedmiotowe:
Article
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7332649/
https://ncbi.nlm.nih.gov/pubmed/32473092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.05.001
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