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A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing
BACKGROUND: To dissect the genetic causes underlying diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI) within a family. METHODS: Whole-exome sequencing of the proband was performed and DOR and Sanger sequencing was carried out to validate presence of the variant in the proba...
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| Publicat a: | J Ovarian Res |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6896303/ https://ncbi.nlm.nih.gov/pubmed/31810472 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13048-019-0595-0 |
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