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Article

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

Arquivos brasileiros de endocrinologia e metabologia - 1 Feb 2009

Campos Viviane C, Pereira Rossana M C, Torres Natália, Castro Margaret de, Aguiar-Oliveira Manuel H

Abstract excerpt

OBJECTIVES: Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). 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. METHODS: Genotypes were classified into 3...

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Identifiers

PMID: 19347184
DOI: 10.1590/s0004-27302009000100007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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