Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis

Autor: Mello,Maricilda Palandi de, Coeli,Fernanda Borchers, Assumpção,Juliana Godoy, Castro,Tammy Mazeo, Maciel-Guerra,Andréa Trevas, Marques-de-Faria,Antônia Paula, Baptista,Maria Tereza Matias, Guerra-Júnior,Gil

Publikováno v: Arquivos Brasileiros de Endocrinologia & Metabologia v.54 n.8 2010
Arquivos Brasileiros de Endocrinologia & Metabologia
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
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The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. S

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Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis.

Autor: Mello MP; Center for Molecular Biology and Genetic Engineering, Universidade Estadual de Campinas, SP, Brazil. mmello@unicamp.br, Coeli FB, Assumpção JG, Castro TM, Maciel-Guerra AT, Marques-de-Faria AP, Baptista MT, Guerra-Júnior G

Publikováno v: Arquivos brasileiros de endocrinologia e metabologia [Arq Bras Endocrinol Metabol] 2010 Nov; Vol. 54 (8), pp. 749-53.