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...
Asıl Yazarlar: | , , , , , , , |
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Materyal Türü: | Makale |
Dil: | English |
Baskı/Yayın Bilgisi: |
Associação Brasileira de Divulgação Científica
2000-10-01
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Seri Bilgileri: | Brazilian Journal of Medical and Biological Research |
Konular: | |
Online Erişim: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000011 |