Article
A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation.
Journal of assisted reproduction and genetics - 1 Jan 2021
Zhang Dazhi, Zhu Lixia, Liu Zhenxing, Ren Xinling, Yang Xue, Li Dan, Luo Yalin, Peng Xuejie, Zhou Xiaopei, Jia Weimin, Hou Meiqi, Li Zhou, Jin Lei, Zhang Xianqin
Abstract excerpt
PURPOSE: To identify disease-causing genes involved in female infertility. METHODS: Whole-exome sequencing and Sanger DNA sequencing were used to identify the mutations in disease-causing genes. We performed subcellular protein localization, western immunoblotting analysis, and co-immunoprecipitation analysis to evaluate the effects of the mutation. RESULTS: We investigated 17 families with female infertility....
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