Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine disease. Steroid 11β-hydroxylase deficiency (11β-OHD) is the second most common form of CAH. The aim of the study was to study the functional consequences of three novel and one previously describe...

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Main Authors: Menabò, Soara, Polat, Seher, Baldazzi, Lilia, Kulle, Alexandra E, Holterhus, Paul-Martin, Grötzinger, Joachim, Fanelli, Flaminia, Balsamo, Antonio, Riepe, Felix G
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2014
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3992560/
https://ncbi.nlm.nih.gov/pubmed/24022297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.197
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