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21-Hydroxylase deficiency in Brazil

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 gen...

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Główni autorzy: T.A.S.S. Bachega, A.E.C. Billerbeck, G. Madureira, J.A.M. Marcondes, C.A. Longui, M.V. Leite, I.J.P. Arnhold, B.B. Mendonça
Format: Artigo
Język:Inglês
Wydane: Associação Brasileira de Divulgação Científica 2000-10-01
Seria:Brazilian Journal of Medical and Biological Research
Hasła przedmiotowe:
21-hydroxylase deficiency
congenital adrenal hyperplasia
Brazilian patients
CYP21 mutations
genotype
phenotype
Dostęp online:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000011
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