Blar i Faculty of Medicine på emneord "novel mutations"
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Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia
(Peer reviewed; Journal article, 2014)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 ...