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Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency
BACKGROUND: To dissect the genetic alteration in two sisters with premature ovarian insufficiency (POI) from a consanguineous family. METHODS: Whole-exome sequencing technology was used in the POI proband, bioinformatics analysis was carried out to identify the potential genetic cause in this pedigr...
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| Yayımlandı: | J Ovarian Res |
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| Asıl Yazarlar: | , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2018
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6006558/ https://ncbi.nlm.nih.gov/pubmed/29914564 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13048-018-0413-0 |
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