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A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2.
Saettini, F; Castelli, I; Provenzi, M; Fazio, G; Quadri, M; Cazzaniga, G; Sala, S; Dell'Acqua, F; Sieni, E; Coniglio, M L; Pezzoli, L; Iascone, M; Vendemini, F; Balduzzi, A C; Biondi, A; Rizzari, C; Bonanomi, S.
Afiliação
  • Saettini F; Pediatric Hematology-Oncology Unit, Department of Pediatrics, University of Milano-Bicocca, MBBM Foundation, Monza, Italy.
  • Castelli I; Pediatric Hematology-Oncology Unit, Department of Pediatrics, University of Milano-Bicocca, MBBM Foundation, Monza, Italy.
  • Provenzi M; Pediatric Unit, Hospital Papa Giovanni XXIII, Bergamo, Italy.
  • Fazio G; Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.
  • Quadri M; Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.
  • Cazzaniga G; Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.
  • Sala S; Department of Medicine and Surgery, University of Milan Bicocca, Monza, Italy.
  • Dell'Acqua F; Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.
  • Sieni E; Pediatric Hematology-Oncology Unit, Department of Pediatrics, University of Milano-Bicocca, MBBM Foundation, Monza, Italy.
  • Coniglio ML; Department of Paediatric Oncohematology, Meyer Children's University Hospital, Florence, Italy.
  • Pezzoli L; Department of Paediatric Oncohematology, Meyer Children's University Hospital, Florence, Italy.
  • Iascone M; Molecular Genetics Laboratory, USSD LGM, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Vendemini F; Molecular Genetics Laboratory, USSD LGM, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Balduzzi AC; Pediatric Hematology-Oncology Unit, Department of Pediatrics, University of Milano-Bicocca, MBBM Foundation, Monza, Italy.
  • Biondi A; Pediatric Hematology-Oncology Unit, Department of Pediatrics, University of Milano-Bicocca, MBBM Foundation, Monza, Italy.
  • Rizzari C; Pediatric Hematology-Oncology Unit, Department of Pediatrics, University of Milano-Bicocca, MBBM Foundation, Monza, Italy.
  • Bonanomi S; Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.
Pediatr Hematol Oncol ; 38(2): 174-178, 2021 Mar.
Article em En | MEDLINE | ID: mdl-32696691
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linfo-Histiocitose Hemofagocítica / Perforina Tipo de estudo: Etiology_studies Limite: Humans / Infant / Male Idioma: En Revista: Pediatr Hematol Oncol Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linfo-Histiocitose Hemofagocítica / Perforina Tipo de estudo: Etiology_studies Limite: Humans / Infant / Male Idioma: En Revista: Pediatr Hematol Oncol Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália