Article
SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.
International journal of andrology - 1 Dec 2011
Fernández-Cancio M, Audí L, Andaluz P, Torán N, Piró C, Albisu M, Gussinyé M, Yeste D, Clemente M, Martínez-Mora J, Blanco A, Granada M L, Marco M, Ferragut J, López-Siguero J P, Beneyto M, Carles C, Carrascosa A
Abstract excerpt
One hundred and forty-six index patients with 46,XY DSD in whom gonads were confirmed as testes were consecutively studied for a molecular diagnosis during the period 2002-2010. AR gene was analysed in all patients as the first candidate gene, yielding a mutation in 42.5% of cases and SRD5A2 gene was analysed as the second candidate gene, resulting in the characterization of 10 different mutations (p.Y91D,...
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