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Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males

The steroidogenic factor 1 (SF1) protein, encoded by the NR5A1 gene, plays a central role in gonadal development and steroidogenesis. Mutations in NR5A1 were first described in patients with primary adrenal insufficiency and 46,XY disorders of sexual development and later also in men with hypospadia...

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Detalhes bibliográficos
Main Authors: Röpke, Albrecht, Tewes, Ann-Christin, Gromoll, Jörg, Kliesch, Sabine, Wieacker, Peter, Tüttelmann, Frank
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3746266/
https://ncbi.nlm.nih.gov/pubmed/23299922
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.290
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