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Article

Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest.

Journal of assisted reproduction and genetics - 1 Apr 2020

Liu Zhenxing, Zhu Lixia, Wang Jiarui, Luo Geng, Xi Qingsong, Zhou Xiaopei, Li Zhou, Yang Xue, Duan Jinliang, Jin Lei, Zhang Xianqin

Abstract excerpt

PURPOSE: To identify the disease gene in 40 patients with female infertility due to oocyte maturation arrest. METHODS: Genomic DNA was extracted from peripheral blood of 40 patients and their family members. Whole-exome sequencing was performed on the patients, and the PATL2 mutations were identified and confirmed by Sanger sequencing. Harmfulness of the mutations was analyzed by SIFT, Polyphen-2, Mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32048119
DOI: 10.1007/s10815-020-01698-6
PMCID: PMC7183019

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