Article
Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.
The Journal of clinical endocrinology and metabolism - 1 May 2006
Di Pasquale Elisa, Rossetti Raffaella, Marozzi Anna, Bodega Beatrice, Borgato Stefano, Cavallo Luciano, Einaudi Silvia, Radetti Giorgio, Russo Gianni, Sacco Michele, Wasniewska Malgorzata, Cole Trevor, Beck-Peccoz Paolo, Nelson Lawrence M, Persani Luca
Abstract excerpt
CONTEXT: Premature ovarian failure (POF) is a cause of female infertility characterized by primary (PA) or secondary amenorrhea (SA) and elevated gonadotropins. The pathogenesis is unknown in most cases. We recently reported two sisters with PA carrying a heterozygous mutation of BMP15 gene (locus Xp11.2), but the prevalence of BMP15 variations in the POF population is unknown. OBJECTIVE: The objective of the...
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