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Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.
Noetzli, Leila; Lo, Richard W; Lee-Sherick, Alisa B; Callaghan, Michael; Noris, Patrizia; Savoia, Anna; Rajpurkar, Madhvi; Jones, Kenneth; Gowan, Katherine; Balduini, Carlo; Pecci, Alessandro; Gnan, Chiara; De Rocco, Daniela; Doubek, Michael; Li, Ling; Lu, Lily; Leung, Richard; Landolt-Marticorena, Carolina; Hunger, Stephen; Heller, Paula; Gutierrez-Hartmann, Arthur; Xiayuan, Liang; Pluthero, Fred G; Rowley, Jesse W; Weyrich, Andrew S; Kahr, Walter H A; Porter, Christopher C; Di Paola, Jorge.
Afiliação
  • Noetzli L; Department of Pediatrics, University of Colorado Anschutz Medical Campus (AMC), Aurora, Colorado, CO, USA.
  • Lo RW; Human Medical Genetics and Genomics Program, University of Colorado AMC, Aurora, Colorado, USA.
  • Lee-Sherick AB; Program in Cell Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Callaghan M; Department of Biochemistry, University of Toronto, Toronto, Ontario, Canada.
  • Noris P; Department of Pediatrics, University of Colorado Anschutz Medical Campus (AMC), Aurora, Colorado, CO, USA.
  • Savoia A; Children's Hospital of Michigan, Wayne State University, Detroit, MI, USA.
  • Rajpurkar M; Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
  • Jones K; Department of Medical Sciences, University of Trieste, Trieste, Italy.
  • Gowan K; Institute for Maternal and Child Health- IRCCS Burlo Garofolo, Trieste, Italy.
  • Balduini C; Children's Hospital of Michigan, Wayne State University, Detroit, MI, USA.
  • Pecci A; Department of Biochemistry and Molecular Genetics, University of Colorado AMC, Aurora, Colorado, USA.
  • Gnan C; Department of Biochemistry and Molecular Genetics, University of Colorado AMC, Aurora, Colorado, USA.
  • De Rocco D; Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
  • Doubek M; Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
  • Li L; Department of Medical Sciences, University of Trieste, Trieste, Italy.
  • Lu L; Institute for Maternal and Child Health- IRCCS Burlo Garofolo, Trieste, Italy.
  • Leung R; Department of Medical Sciences, University of Trieste, Trieste, Italy.
  • Landolt-Marticorena C; Institute for Maternal and Child Health- IRCCS Burlo Garofolo, Trieste, Italy.
  • Hunger S; Department of Internal Medicine, Haematology/Oncology, University Hospital Brno, CZ.
  • Heller P; Program in Cell Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Gutierrez-Hartmann A; Program in Cell Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Xiayuan L; Program in Cell Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Pluthero FG; Department of Medicine, University of Toronto, Division of Rheumatology University Health Network, Toronto Western Hospital, Toronto, Ontario, Canada.
  • Rowley JW; Department of Pediatrics, University of Colorado Anschutz Medical Campus (AMC), Aurora, Colorado, CO, USA.
  • Weyrich AS; Instituto de Investigaciones Medicas Alfredo Lanari, Universidad de Buenos Aires, Buenos Aires, Argentina.
  • Kahr WHA; Department of Biochemistry and Molecular Genetics, University of Colorado AMC, Aurora, Colorado, USA.
  • Porter CC; Departments of Medicine, University of Colorado, AMC, Aurora, Colorado, USA.
  • Di Paola J; Department of Pathology, University of Colorado, AMC, Aurora, Colorado, USA.
Nat Genet ; 47(5): 535-538, 2015 May.
Article em En | MEDLINE | ID: mdl-25807284
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Trombocitopenia / Proteínas Proto-Oncogênicas c-ets / Doenças Hematológicas Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Trombocitopenia / Proteínas Proto-Oncogênicas c-ets / Doenças Hematológicas Idioma: En Ano de publicação: 2015 Tipo de documento: Article