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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Autores principales: Röpke, Albrecht, Tewes, Ann-Christin, Gromoll, Jörg, Kliesch, Sabine, Wieacker, Peter, Tüttelmann, Frank
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2013
Materias:
Short Report
Acceso en línea: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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