A NANOS3 mutation linked to protein degradation causes premature ovarian insufficiency

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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 germ cell development and maintenance by repressing apoptosis. We performed mutational analysis ...

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ژورنال

عنوان ژورنال: Cell Death & Disease

سال: 2013

ISSN: 2041-4889

DOI: 10.1038/cddis.2013.368