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Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development.
Fabbri-Scallet, Helena; de Mello, Maricilda Palandi; Guerra-Júnior, Gil; Maciel-Guerra, Andréa Trevas; de Andrade, Juliana Gabriel Ribeiro; de Queiroz, Camila Maia Costa; Monlleó, Isabella Lopes; Struve, Dagmar; Hiort, Olaf; Werner, Ralf.
Afiliação
  • Fabbri-Scallet H; Center for Molecular Biology and Genetic Engineering - CBMEG, State University of Campinas, São Paulo, Brazil.
  • de Mello MP; Center for Molecular Biology and Genetic Engineering - CBMEG, State University of Campinas, São Paulo, Brazil.
  • Guerra-Júnior G; Department of Pediatrics, Faculty of Medical Sciences, State University of Campinas, São Paulo, Brazil.
  • Maciel-Guerra AT; Interdisciplinary Group for the Study of Sex Determination and Differentiation - GIEDDS, State University of Campinas, São Paulo, Brazil.
  • de Andrade JGR; Interdisciplinary Group for the Study of Sex Determination and Differentiation - GIEDDS, State University of Campinas, São Paulo, Brazil.
  • de Queiroz CMC; Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, São Paulo, Brazil.
  • Monlleó IL; Interdisciplinary Group for the Study of Sex Determination and Differentiation - GIEDDS, State University of Campinas, São Paulo, Brazil.
  • Struve D; Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, São Paulo, Brazil.
  • Hiort O; Clinical Genetics Service, Faculty of Medicine, Federal University of Alagoas, Maceió, Alagoas, Brazil.
  • Werner R; Clinical Genetics Service, Faculty of Medicine, Federal University of Alagoas, Maceió, Alagoas, Brazil.
Hum Mutat ; 39(1): 114-123, 2018 01.
Article em En | MEDLINE | ID: mdl-29027717
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Fator Esteroidogênico 1 / Transtorno 46,XY do Desenvolvimento Sexual / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Brasil
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Fator Esteroidogênico 1 / Transtorno 46,XY do Desenvolvimento Sexual / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Brasil