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

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 identifie...

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Publicado en:J Assist Reprod Genet
Autores principales: Liu, Zhenxing, Zhu, Lixia, Wang, Jiarui, Luo, Geng, Xi, Qingsong, Zhou, Xiaopei, Li, Zhou, Yang, Xue, Duan, Jinliang, Jin, Lei, Zhang, Xianqin
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer US 2020
Materias:
Genetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7183019/
https://ncbi.nlm.nih.gov/pubmed/32048119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-020-01698-6
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