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Article

Novel mutations in ZP2 and ZP3 cause female infertility in three patients.

Journal of assisted reproduction and genetics - 1 May 2022

Jia Weimin, Xi Qingsong, Zhu Lixia, Luo Yalin, Li Zhou, Hou Meiqi, Zhang Dazhi, Yang Xue, Hu Juan, Jin Lei, Zhang Xianqin

Abstract excerpt

PURPOSE: The aim of this study was to identify the disease-causing mutations found in three infertile female patients who were diagnosed with abnormal zona pellucida (ZP) and empty follicle syndrome (EFS). METHODS: We performed whole-exome sequencing and Sanger sequencing to identify and verify the disease-causing mutations. Additionally, we performed Western blotting and mini-gene splicing assay to assess the...

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Identifiers

PMID: 35366744
DOI: 10.1007/s10815-022-02466-4
PMCID: PMC9107549

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