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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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Bibliografiske detaljer
Main Authors: Röpke, Albrecht, Tewes, Ann-Christin, Gromoll, Jörg, Kliesch, Sabine, Wieacker, Peter, Tüttelmann, Frank
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2013
Fag:
Online adgang: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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