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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Brønstad, Ingeborg, Breivik, Lars, Methlie, Paal, Wolff, Anette S B, Bratland, Eirik, Nermoen, Ingrid, Løvås, Kristian, Husebye, Eystein S
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Bioscientifica Ltd 2014
Pynciau:
Research
Mynediad Ar-lein: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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