A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome

PURPOSE: To identify a pathogenic gene mutation in a female infertility proband characterized by empty follicle syndrome (EFS) and explore the genetic cause of EFS. METHODS: Whole exome sequencing (WES) was performed to identify the candidate pathogenic mutation. Sanger sequencing was used to valida...

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Detaylı Bibliyografya
Yayımlandı:J Assist Reprod Genet
Asıl Yazarlar: Wang, Jing, Yang, Xiaoyu, Sun, Xueping, Ma, Long, Yin, Yaoxue, He, Guoxiang, Zhang, Yuan, Zhou, Jie, Cai, Lingbo, Liu, Jiayin, Ma, Xiang
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer US 2021
Konular:
Genetics
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8266959/
https://ncbi.nlm.nih.gov/pubmed/33665726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-021-02136-x
Etiketler: Etiketle
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