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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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| Yayımlandı: | J Assist Reprod Genet |
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| Asıl Yazarlar: | , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Springer US
2021
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| Konular: | |
| 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 |
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