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Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
Ekvall, Sara; Wilbe, Maria; Dahlgren, Jovanna; Legius, Eric; van Haeringen, Arie; Westphal, Otto; Annerén, Göran; Bondeson, Marie-Louise.
Afiliação
  • Ekvall S; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden. sara.ekvall@igp.uu.se.
  • Wilbe M; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden. maria.wilbe@igp.uu.se.
  • Dahlgren J; Department of Paediatrics, the Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden. jovanna.dahlgren@gu.se.
  • Legius E; Department of Human Genetics, KU Leuven, Leuven, Belgium. Eric.Legius@uzleuven.be.
  • van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. A.van_Haeringen@lumc.nl.
  • Westphal O; Department of Paediatrics, the Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden. otto.westphal@gu.se.
  • Annerén G; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden. goran.anneren@igp.uu.se.
  • Bondeson ML; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden. marielouise.bondeson@igp.uu.se.
BMC Med Genet ; 16: 95, 2015 Oct 14.
Article em En | MEDLINE | ID: mdl-26467218
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Sequenciamento de Nucleotídeos em Larga Escala / GTP Fosfo-Hidrolases / Proteínas de Membrana / Mutação / Síndrome de Noonan Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Sequenciamento de Nucleotídeos em Larga Escala / GTP Fosfo-Hidrolases / Proteínas de Membrana / Mutação / Síndrome de Noonan Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article