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Type: Artigo de periódico
Title: Recurrence Of A Nonsense Mutation In The Conserved Domain Of Sry In A Brazilian Patient With 46,xy Gonadal Dysgenesis.
Author: Assumpção, J G
Guerra, A T
Palandi de Mello, M
Abstract: We tested a female patient with 46,XY karyotype and pure gonadal dysgenesis for the presence of the SRY gene and for mutations within the SRY conserved domain. A point mutation was identified at nucleotide position 209 with respect to the first ATG. The base substitution is a G-->A transition in the first nucleotide of codon 70 which changes a tryptophan (TGG) to a stop codon (TAG). Even though the father was not available for investigation we assumed that it is a de novo mutation, since it probably generates a nonfunctional truncated protein.
Subject: Adolescent
Codon, Nonsense
Gonadal Dysgenesis, 46,xy
Point Mutation
Reverse Transcriptase Polymerase Chain Reaction
Rights: fechado
Identifier DOI: 
Date Issue: -1-Uns- -1
Appears in Collections:Unicamp - Artigos e Outros Documentos

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