Article
21-Hydroxylase deficiency in Brazil.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Oct 2000
Bachega T A, Billerbeck A E, Madureira G, Marcondes J A, Longui C A, Leite M V, Arnhold I J, Mendonça B B
Abstract excerpt
We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4%) than in most of the previous series described, whereas the frequency of large gene conversions was similar to the frequency reported in the literature (6.6%). The most frequent point mutations were...
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