A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency

"Premature ovarian insufficiency (POI) is a frequent pathology that affects women under 40 years of age, characterized by an early cessation of menses and high FSH levels. Despite recent progresses in molecular diagnosis, the etiology of POI remains idiopathic in most cases. Whole-exome sequenc...

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Detalles Bibliográficos
Autores Principales: "Carlosama, Carolina, Elzaiat, Maëva, Patiño, Liliana C, Mateus, Heidi E, Veitia, Reiner A, Laissue, Paul"
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/24224
https://doi.org/10.1093/hmg/ddx199