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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Bibliographische Detailangaben
Hauptverfasser: Brønstad, Ingeborg, Breivik, Lars, Methlie, Paal, Wolff, Anette S B, Bratland, Eirik, Nermoen, Ingrid, Løvås, Kristian, Husebye, Eystein S
Format: Artigo
Sprache:Inglês
Veröffentlicht: Bioscientifica Ltd 2014
Schlagworte:
Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3987286/
https://ncbi.nlm.nih.gov/pubmed/24671123
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EC-14-0032
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