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A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
de Munnik, Sonja A; García-Miñaúr, Sixto; Hoischen, Alexander; van Bon, Bregje W; Boycott, Kym M; Schoots, Jeroen; Hoefsloot, Lies H; Knoers, Nine V A M; Bongers, Ernie M H F; Brunner, Han G.
Afiliação
  • de Munnik SA; Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • García-Miñaúr S; Department of Clinical Genetics, Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain.
  • Hoischen A; Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • van Bon BW; Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Boycott KM; Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Schoots J; Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Hoefsloot LH; Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Knoers NV; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Bongers EM; Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Brunner HG; Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.
Eur J Hum Genet ; 22(6): 844-6, 2014 Jun.
Article em En | MEDLINE | ID: mdl-24193349
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Cromossomos Humanos Par 1 / Deleção Cromossômica / Códon sem Sentido Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Cromossomos Humanos Par 1 / Deleção Cromossômica / Códon sem Sentido Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido