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A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis.
Zhang, Mingce; Bracaglia, Claudia; Prencipe, Giusi; Bemrich-Stolz, Christina J; Beukelman, Timothy; Dimmitt, Reed A; Chatham, W Winn; Zhang, Kejian; Li, Hao; Walter, Mark R; De Benedetti, Fabrizio; Grom, Alexei A; Cron, Randy Q.
Afiliación
  • Zhang M; Division of Pediatric Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35233;
  • Bracaglia C; Divisione di Reumatologia Pediatrica, Ospedale Pediatrico Bambino Gesù, 00165 Rome, Italy;
  • Prencipe G; Divisione di Reumatologia Pediatrica, Ospedale Pediatrico Bambino Gesù, 00165 Rome, Italy;
  • Bemrich-Stolz CJ; Division of Pediatric Hematology-Oncology, University of Alabama at Birmingham, Birmingham, AL 35233;
  • Beukelman T; Division of Pediatric Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35233; Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35294;
  • Dimmitt RA; Division of Pediatric Gastroenterology, University of Alabama at Birmingham, Birmingham, AL 35233;
  • Chatham WW; Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35294;
  • Zhang K; Human Genetics, University of Cincinnati, Cincinnati, OH 45229;
  • Li H; Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35294;
  • Walter MR; Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL 35294; and.
  • De Benedetti F; Divisione di Reumatologia Pediatrica, Ospedale Pediatrico Bambino Gesù, 00165 Rome, Italy;
  • Grom AA; Division of Pediatric Rheumatology, University of Cincinnati, Cincinnati, OH 45229.
  • Cron RQ; Division of Pediatric Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35233; Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35294; rcron@peds.uab.edu.
J Immunol ; 196(6): 2492-503, 2016 Mar 15.
Article en En | MEDLINE | ID: mdl-26880764
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Células Asesinas Naturales / Degranulación de la Célula / Mutación Missense / Proteínas de Unión al GTP rab / Linfohistiocitosis Hemofagocítica Tipo de estudio: Risk_factors_studies Límite: Adolescent / Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Células Asesinas Naturales / Degranulación de la Célula / Mutación Missense / Proteínas de Unión al GTP rab / Linfohistiocitosis Hemofagocítica Tipo de estudio: Risk_factors_studies Límite: Adolescent / Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article