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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Detalles Bibliográficos
Autores principales: Zhao, Minying, Feng, Fan, Chu, Chunfang, Yue, Wentao, Li, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896303/
https://www.ncbi.nlm.nih.gov/pubmed/31810472
http://dx.doi.org/10.1186/s13048-019-0595-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896303/
https://www.ncbi.nlm.nih.gov/pubmed/31810472
http://dx.doi.org/10.1186/s13048-019-0595-0

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