[Molecular characterization of mutations and phenotype/genotype correlation in Chinese patients with 21-hydroxylase deficiency].

Abstract excerpt

To investigate characteristics of CYP21 mutations in Chinese patients with 21-hydroxylase deficiency (21-OHD) and the relationship between genotype and phenotype, a time saving, reliable molecular diagnosis method was developed. Eight patients with NC 21-OHD, 35 patients with classical ones and 34 normal controls were studied as followed: CYP21 gene was amplified into fragment 1 (exon1 --> exon3) and fragment 2...

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