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Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia

In about 95% of cases, congenital adrenal hyperplasia (CAH) is caused by mutations in CYP21A2 gene encoding steroid 21-hydroxylase (21OH). Recently, we have reported four novel CYP21A2 variants in the Norwegian population of patients with CAH, of which p.L388R and p.E140K were associated with salt w...

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Detalles Bibliográficos
Autores principales:	Brønstad, Ingeborg, Breivik, Lars, Methlie, Paal, Wolff, Anette S B, Bratland, Eirik, Nermoen, Ingrid, Løvås, Kristian, Husebye, Eystein S
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2014
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987286/ https://www.ncbi.nlm.nih.gov/pubmed/24671123 http://dx.doi.org/10.1530/EC-14-0032

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