New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing

"STUDY QUESTION Is it possible to identify new mutations potentially associated with non-syndromic primary ovarian insufficiency (POI) via whole-exome sequencing (WES)? SUMMARY ANSWER WES is an efficient tool to study genetic causes of POI as we have identified new mutations, some of which lead...

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Detalles Bibliográficos
Autores Principales: "Patiño, Liliana Catherine, Beau, Isabelle, Carlosama, Carolina, Buitrago, July Constanza, González, Ronald, Suárez, Carlos Fernando, Patarroyo, Manuel Alfonso, Delemer, Brigitte, Young, Jacques, Binart, Nadine, Laissue, Paul"
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/24231
https://doi.org/10.1093/humrep/dex089