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Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency

Despite the increasing understanding of female reproduction, the molecular diagnosis of primary ovarian insufficiency (POI) is seldom obtained. The RNA-binding protein NANOS3 poses as an interesting candidate gene for POI since members of the Nanos family have an evolutionarily conserved function in...

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Detalles Bibliográficos
Autores principales: Santos, Mariza G., Machado, Aline Z., Martins, Conceição N., Domenice, Sorahia, Costa, Elaine M. F., Nishi, Mirian Y., Ferraz-de-Souza, Bruno, Jorge, Soraia A. C., Pereira, Carlos A., Soardi, Fernanda C., de Mello, Maricilda P., Maciel-Guerra, Andrea T., Guerra-Junior, Gil, Mendonca, Berenice B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098983/
https://www.ncbi.nlm.nih.gov/pubmed/25054146
http://dx.doi.org/10.1155/2014/787465