Title : High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil.

Pub. Date : 2009 Feb

PMID : 19347184






1 Functional Relationships(s)
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1 The aim of this study was to determine, by allele-specific PCR, the frequency of microconversions of the CYP21A2, in sixteen patients with the classical forms and in 5 patients with the nonclassical (NC) form of CAH-21OH and correlate genotype with phenotype. 21oh cytochrome P450 family 21 subfamily A member 2 Homo sapiens