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A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.
Netter, Petra; Chan, Sanny K; Banerjee, Pinaki P; Monaco-Shawver, Linda; Noroski, Lenora M; Hanson, Imelda C; Forbes, Lisa R; Mace, Emily M; Chinen, Javier; Gaspar, H Bobby; Sleiman, Patrick; Hakonarson, Hakon; Klein, Christoph; Ehlayel, Mohammad S; Orange, Jordan S.
Afiliação
  • Netter P; Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
  • Chan SK; National Jewish Health, Denver, Colo.
  • Banerjee PP; Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
  • Monaco-Shawver L; Children's Hospital of Philadelphia, Philadelphia, Pa.
  • Noroski LM; Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
  • Hanson IC; Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
  • Forbes LR; Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
  • Mace EM; Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
  • Chinen J; Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
  • Gaspar HB; Pediatrics and Immunology, University College London, London, United Kingdom.
  • Sleiman P; Children's Hospital of Philadelphia, Philadelphia, Pa.
  • Hakonarson H; Children's Hospital of Philadelphia, Philadelphia, Pa.
  • Klein C; Dr. von Hauner Children's Hospital, Department of Pediatrics, Ludwig-Maximilians-Universität Munich, Munich, Germany.
  • Ehlayel MS; Weill-Cornell Medical College, New York, NY, and Hamad General Hospital, Doha, Qatar.
  • Orange JS; Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex. Electronic address: orange@bcm.edu.
J Allergy Clin Immunol ; 138(2): 599-601.e3, 2016 08.
Article em En | MEDLINE | ID: mdl-27016801
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Proteínas Adaptadoras de Transdução de Sinal / Proteínas rab27 de Ligação ao GTP / Síndromes de Imunodeficiência / Proteínas de Membrana Limite: Female / Humans / Male Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Proteínas Adaptadoras de Transdução de Sinal / Proteínas rab27 de Ligação ao GTP / Síndromes de Imunodeficiência / Proteínas de Membrana Limite: Female / Humans / Male Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2016 Tipo de documento: Article