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Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation.
Hagl, Beate; Spielberger, Benedikt D; Thoene, Silvia; Bonnal, Sophie; Mertes, Christian; Winter, Christof; Nijman, Isaac J; Verduin, Shira; Eberherr, Andreas C; Puel, Anne; Schindler, Detlev; Ruland, Jürgen; Meitinger, Thomas; Gagneur, Julien; Orange, Jordan S; van Gijn, Marielle E; Renner, Ellen D.
Afiliación
  • Hagl B; Chair and Institute of Environmental Medicine, UNIKA-T, Technical University of Munich and Helmholtz Zentrum Munich, Munich/Augsburg, Munich, Germany.
  • Spielberger BD; University Children's Hospital, Dr. von Haunersches Kinderspital, Ludwig Maximilian University, Munich, Germany.
  • Thoene S; Chair and Institute of Environmental Medicine, UNIKA-T, Technical University of Munich and Helmholtz Zentrum Munich, Munich/Augsburg, Munich, Germany.
  • Bonnal S; University Children's Hospital, Dr. von Haunersches Kinderspital, Ludwig Maximilian University, Munich, Germany.
  • Mertes C; Institute of Clinical Chemistry and Pathobiochemistry, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
  • Winter C; German Cancer Consortium (DKTK), partner site Munich, Munich, Germany.
  • Nijman IJ; German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Verduin S; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona, 08002, Spain.
  • Eberherr AC; Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Puel A; Department of Informatics, Technical University of Munich, Garching, Germany.
  • Schindler D; Institute of Clinical Chemistry and Pathobiochemistry, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
  • Ruland J; German Cancer Consortium (DKTK), partner site Munich, Munich, Germany.
  • Meitinger T; German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Gagneur J; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Orange JS; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van Gijn ME; Chair and Institute of Environmental Medicine, UNIKA-T, Technical University of Munich and Helmholtz Zentrum Munich, Munich/Augsburg, Munich, Germany.
  • Renner ED; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, Paris, France.
Sci Rep ; 8(1): 16719, 2018 11 13.
Article en En | MEDLINE | ID: mdl-30425284
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Intrones / Factores de Intercambio de Guanina Nucleótido / Sitios de Empalme de ARN / Síndrome de Job / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Child, preschool / Female / Humans / Infant / Pregnancy Idioma: En Revista: Sci Rep Año: 2018 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Intrones / Factores de Intercambio de Guanina Nucleótido / Sitios de Empalme de ARN / Síndrome de Job / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Child, preschool / Female / Humans / Infant / Pregnancy Idioma: En Revista: Sci Rep Año: 2018 Tipo del documento: Article País de afiliación: Alemania