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Type: Artigo de periódico
Title: Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism
Author: Cabral, D.F.
Maciel-Guerra, A.T.
Hackel, C.
Abstract: We describe the identification of point mutations in the androgen receptor gene in five Brazilian patients with female assignment and behavior. The eight exons of the gene were amplified by the polymerase chain reaction (PCR) and analyzed for single-strand conformation polymorphism (SSCP) to detect the mutations. Direct sequencing of the mutant PCR products demonstrated single transitions in three of these cases: G®A in case 1, within exon C, changing codon 615 from Arg to His; G®A in case 2, within exon E, changing codon 752 from Arg to Gln, and C®T in case 3, within exon B, but without amino acid change.
Subject: androgen receptor gene
gene mutations
androgen insensitivity syndromes
male pseudohermaphroditism
Editor: Associação Brasileira de Divulgação Científica
Rights: aberto
Identifier DOI: 10.1590/S0100-879X1998000600008
Date Issue: 1-Jun-1998
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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