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Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
van Os, Nienke J H; Chessa, Luciana; Weemaes, Corry M R; van Deuren, Marcel; Fiévet, Alice; van Gaalen, Judith; Mahlaoui, Nizar; Roeleveld, Nel; Schrader, Christoph; Schindler, Detlev; Taylor, Alexander M R; Van de Warrenburg, Bart P C; Dörk, Thilo; Willemsen, Michèl A A P.
Afiliação
  • van Os NJH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Chessa L; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Weemaes CMR; Department of Clinical and Molecular Medicine, Sapienza Università di Roma, Rome, Italy.
  • van Deuren M; Department of Pediatrics, Pediatric Infectious Disease and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Fiévet A; Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
  • van Gaalen J; INSERM UMR 830, Institut de recherche, Institut Curie, PSL Research University, Paris, France.
  • Mahlaoui N; Service de Génétique, Institut Curie Hôpital, Paris, France.
  • Roeleveld N; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Schrader C; French National Reference Center for Primary Immune Deficiencies (CEREDIH), Pediatric Immuno-Haematology and Rheumatology Unit, Biostatistics Unit, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Schindler D; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Taylor AMR; INSERM UMR 1163, Sorbonne Paris Cité, Imagine Institute, Paris Descartes University, Paris, France.
  • Van de Warrenburg BPC; Department of Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Dörk T; Department of Neurology, Hannover Medical School, Hannover, Germany.
  • Willemsen MAAP; Institute of Human Genetics, University of Wurzburg, Wurzburg, Germany.
J Med Genet ; 56(5): 308-316, 2019 05.
Article em En | MEDLINE | ID: mdl-30819809
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Ataxia Telangiectasia / Alelos / Estudos de Associação Genética / Proteínas Mutadas de Ataxia Telangiectasia / Genótipo / Mutação Tipo de estudo: Prognostic_studies / Systematic_reviews Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Ataxia Telangiectasia / Alelos / Estudos de Associação Genética / Proteínas Mutadas de Ataxia Telangiectasia / Genótipo / Mutação Tipo de estudo: Prognostic_studies / Systematic_reviews Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda