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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: Assumpcao, JG
Guerra, ATM
de Mello, MP
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: SRY
sex reversal
gonadal dysgenesis
Country: Inglaterra
Editor: Freund Publishing House Ltd
Citation: Journal Of Pediatric Endocrinology & Metabolism. Freund Publishing House Ltd, v. 12, n. 3, n. 455, n. 457, 1999.
Rights: embargo
Date Issue: 1999
Appears in Collections:Unicamp - Artigos e Outros Documentos

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