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Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.
Spessott, Waldo A; Sanmillan, Maria L; McCormick, Margaret E; Patel, Nishant; Villanueva, Joyce; Zhang, Kejian; Nichols, Kim E; Giraudo, Claudio G.
Afiliação
  • Spessott WA; Department of Pathology and Laboratory Medicine, and.
  • Sanmillan ML; Department of Pathology and Laboratory Medicine, and.
  • McCormick ME; Department of Pathology and Laboratory Medicine, and.
  • Patel N; Division of Oncology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA;
  • Villanueva J; Division of Bone Marrow Transplant and Immune Deficiency, and.
  • Zhang K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; and.
  • Nichols KE; Division of Cancer Predisposition, Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN.
  • Giraudo CG; Department of Pathology and Laboratory Medicine, and.
Blood ; 125(10): 1566-77, 2015 Mar 05.
Article em En | MEDLINE | ID: mdl-25564401

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Linfo-Histiocitose Hemofagocítica / Proteínas SNARE / Proteínas Munc18 / Proteínas Mutantes Tipo de estudo: Prognostic_studies Idioma: En Revista: Blood Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Linfo-Histiocitose Hemofagocítica / Proteínas SNARE / Proteínas Munc18 / Proteínas Mutantes Tipo de estudo: Prognostic_studies Idioma: En Revista: Blood Ano de publicação: 2015 Tipo de documento: Article