A Novel Nonsense Mutation c.374C>G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia.
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DOI: 10.1007/5584_2018_300
Abstract: Inactivating mutations of the CYP21A2 gene, encoding for steroid synthesis, have been reported in patients with congenital adrenal hyperplasia (CAH). We report a case of an infant who were diagnosed with CAH and presented with… read more here.
Keywords: novel nonsense; mutation 374c; nonsense mutation; cyp21a2 gene ... See more keywords