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Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.
Kerkhofs, Chantal; Stevens, Servi J C; Faust, Saul N; Rae, William; Williams, Anthony P; Wurm, Peter; Østern, Rune; Fockens, Paul; Würfel, Christiane; Laass, Martin; Kokke, Freddy; Stegmann, Alexander P A; Brunner, Han G.
Afiliação
  • Kerkhofs C; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Stevens SJC; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Faust SN; NIHR Southampton Clinical Research Facility and NIHR Southampton Biomedical Research Centre, University of Southampton Faculty of Medicine and University Hospital Southampton, NHS Foundation Trust, Southampton, UK.
  • Rae W; Departments of Immunology and Paediatric Immunology and Infectious Diseases, University Hospital Southampton, UK.
  • Williams AP; NIHR Southampton Clinical Research Facility and NIHR Southampton Biomedical Research Centre, University of Southampton Faculty of Medicine and University Hospital Southampton, NHS Foundation Trust, Southampton, UK.
  • Wurm P; Departments of Immunology and Paediatric Immunology and Infectious Diseases, University Hospital Southampton, UK.
  • Østern R; NIHR Southampton Clinical Research Facility and NIHR Southampton Biomedical Research Centre, University of Southampton Faculty of Medicine and University Hospital Southampton, NHS Foundation Trust, Southampton, UK.
  • Fockens P; Departments of Immunology and Paediatric Immunology and Infectious Diseases, University Hospital Southampton, UK.
  • Würfel C; Department of Gastroenterology, University Hospitals of Leicester, NHS Trust, Leicester, UK.
  • Laass M; Department of Pathology and Medical Genetics, St. Olavs Hospital, Trondheim, Norway.
  • Kokke F; Department of Gastrointestinal diseases, Academic Medical Center, Amsterdam, The Netherlands.
  • Stegmann APA; Department of Pediatrics, University Hospital Dresden, Dresden, Germany.
  • Brunner HG; Department of Pediatrics, University Hospital Dresden, Dresden, Germany.
Hum Mutat ; 41(1): 196-202, 2020 01.
Article em En | MEDLINE | ID: mdl-31498527

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Baço / Fatores de Transcrição / Vasos Sanguíneos / Receptores de Laminina / Proteínas de Homeodomínio / Organogênese / Intestinos / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Baço / Fatores de Transcrição / Vasos Sanguíneos / Receptores de Laminina / Proteínas de Homeodomínio / Organogênese / Intestinos / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article