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Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2.
Schim van der Loeff, Ina; Sprenkeler, Evelien G G; Tool, Anton T J; Abinun, Mario; Grainger, Angela; Engelhardt, Karin R; van Houdt, Michel; Janssen, Hans; Kuijpers, Taco W; Hambleton, Sophie.
Afiliação
  • Schim van der Loeff I; Immunity & Inflammation Theme, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; Great North Children's Hospital (GNCH), Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
  • Sprenkeler EGG; Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital, Amsterdam University Medical Centre, University of Amsterd
  • Tool ATJ; Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Abinun M; Great North Children's Hospital (GNCH), Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
  • Grainger A; Immunity & Inflammation Theme, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Engelhardt KR; Immunity & Inflammation Theme, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • van Houdt M; Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Janssen H; Division of Biochemistry, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
  • Kuijpers TW; Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital, Amsterdam University Medical Centre, University of Amsterd
  • Hambleton S; Immunity & Inflammation Theme, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; Great North Children's Hospital (GNCH), Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom. E
J Allergy Clin Immunol ; 147(6): 2381-2385.e2, 2021 06.
Article em En | MEDLINE | ID: mdl-33279574
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Cromossômicas não Histona / Diferenciação Celular / Sítios de Splice de RNA / Homozigoto / Lactoferrina / Transtornos Leucocíticos / Mutação / Neutrófilos Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Newborn Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Cromossômicas não Histona / Diferenciação Celular / Sítios de Splice de RNA / Homozigoto / Lactoferrina / Transtornos Leucocíticos / Mutação / Neutrófilos Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Newborn Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido