Article
Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism - 1 Dec 1998
Bachega T A, Billerbeck A E, Madureira G, Marcondes J A, Longui C A, Leite M V, Arnhold I J, Mendonca B B
Abstract excerpt
The aim of our study was to determine, by allele-specific PCR, the frequency of point mutations in 130 Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency and to correlate genotype with phenotype. The most frequent mutations were 12 splice (41.8% in salt wasting), I172N (32.6% in simple virilizing), and V281L (40.2% in late onset form). The frequency of the 9 most common...
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