Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia

Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia

Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). We determined by allele-specific PCR the frequency of microconversion in the CYP21A2 gene in 50 Brazilian patients with the classical (salt wasting: SW and simple virilizing: SV) forms and nonclassical...

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Bibliographic Details
Main Authors: N. Torres, M.P. Mello, C.M.R. Germano, L.L.K. Elias, A.C. Moreira, M. Castro
Format: Article
Language:English
Published: Associação Brasileira de Divulgação Científica 2003-10-01
Series:Brazilian Journal of Medical and Biological Research
Subjects:
21-Hydroxylase
Mutation
Microconversion
Genotype
Phenotype
Congenital adrenal hyperplasia
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000006

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000006

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