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Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI

BACKGROUND: Premature ovarian insufficiency (POI) is an ovarian defect characterized by primary or secondary amenorrhea, hypergonadotropism and hypoestrogenism which occurs before the age of 40 years with a major genetic component. In this study we performed clinical evaluation and genetic analysis...

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Detalles Bibliográficos
Autores principales: Ferrarini, Eleonora, De Marco, Giuseppina, Orsolini, Francesca, Gianetti, Elena, Benelli, Elena, Fruzzetti, Franca, Simoncini, Tommaso, Agretti, Patrizia, Tonacchera, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8244212/
https://www.ncbi.nlm.nih.gov/pubmed/34187539
http://dx.doi.org/10.1186/s13048-021-00836-7