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Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity.
Viñas-Giménez, Laura; Donadeu, Laura; Alsina, Laia; Rincón, Rafael; de la Campa, Elena Álvarez; Esteve-Sole, Ana; Català, Albert; Colobran, Roger; de la Cruz, Xavier; Sayós, Joan; Martínez-Gallo, Mónica.
Affiliation
  • Viñas-Giménez L; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Jeffrey Model Foundation Excellence Center, Barcelona, Catalonia, Spain.
  • Donadeu L; Immune Regulation and Immunotherapy Group, CIBBIM-Nanomedicine, Vall d'Hebron Institut de Recerca, Universitat Autonoma de Barcelona, Barcelona, Spain.
  • Alsina L; Functional Unit of Clinical Immunology and Primary Immunodeficiencies, Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, University of Barcelona, Pediatric Research Institute Sant Joan de Déu, Barcelona, Spain.
  • Rincón R; Immune Regulation and Immunotherapy Group, CIBBIM-Nanomedicine, Vall d'Hebron Institut de Recerca, Universitat Autonoma de Barcelona, Barcelona, Spain.
  • de la Campa EÁ; Research Unit in Translational Bioinformatics in Neurosciences, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Esteve-Sole A; Functional Unit of Clinical Immunology and Primary Immunodeficiencies, Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, University of Barcelona, Pediatric Research Institute Sant Joan de Déu, Barcelona, Spain.
  • Català A; Hematology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
  • Colobran R; Institut de Recerca Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
  • de la Cruz X; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Jeffrey Model Foundation Excellence Center, Barcelona, Catalonia, Spain.
  • Sayós J; Diagnostic Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Catalonia, Spain.
  • Martínez-Gallo M; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.
Int J Hematol ; 111(3): 440-450, 2020 Mar.
Article in En | MEDLINE | ID: mdl-31865540
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Full text: 1 Database: MEDLINE Main subject: Cell Degranulation / Lymphohistiocytosis, Hemophagocytic / Munc18 Proteins / Mutation Type of study: Prognostic_studies Limits: Animals / Child, preschool / Humans / Male Language: En Year: 2020 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Cell Degranulation / Lymphohistiocytosis, Hemophagocytic / Munc18 Proteins / Mutation Type of study: Prognostic_studies Limits: Animals / Child, preschool / Humans / Male Language: En Year: 2020 Type: Article