Article
Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.
BioMed research international - 1 Jan 2014
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
Abstract excerpt
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 of NANOS3 in a...
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