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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|
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.|
|Editor:||Freund Publishing House Ltd|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
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