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ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.
Faleschini, Michela; Melazzini, Federica; Marconi, Caterina; Giangregorio, Tania; Pippucci, Tommaso; Cigalini, Elena; Pecci, Alessandro; Bottega, Roberta; Ramenghi, Ugo; Siitonen, Timo; Seri, Marco; Pastore, Annalisa; Savoia, Anna; Noris, Patrizia.
Affiliation
  • Faleschini M; Institute for Maternal and Child Health - "IRCCS Burlo Garofolo", Trieste, Italy.
  • Melazzini F; Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
  • Marconi C; Department of Medical Science, Medical Genetics Unit, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.
  • Giangregorio T; Department of Medical Sciences, University of Trieste, Trieste, Italy.
  • Pippucci T; Department of Medical Science, Medical Genetics Unit, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.
  • Cigalini E; Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
  • Pecci A; Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
  • Bottega R; Institute for Maternal and Child Health - "IRCCS Burlo Garofolo", Trieste, Italy.
  • Ramenghi U; Pediatric Department, Hematology Unit, University of Torino, Torino, Italy.
  • Siitonen T; Department of Medicine, Oulu University Hospital, Oulu, Finland.
  • Seri M; Department of Medical Science, Medical Genetics Unit, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.
  • Pastore A; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Savoia A; Institute for Maternal and Child Health - "IRCCS Burlo Garofolo", Trieste, Italy.
  • Noris P; Department of Medical Sciences, University of Trieste, Trieste, Italy.
Br J Haematol ; 183(2): 276-288, 2018 10.
Article de En | MEDLINE | ID: mdl-30351444

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Thrombopénie / Actinine / Hémopathies / Mutation Type d'étude: Risk_factors_studies Limites: Adult / Aged / Child / Female / Humans / Male / Middle aged Langue: En Journal: Br J Haematol Année: 2018 Type de document: Article Pays d'affiliation: Italie Pays de publication: Royaume-Uni

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Thrombopénie / Actinine / Hémopathies / Mutation Type d'étude: Risk_factors_studies Limites: Adult / Aged / Child / Female / Humans / Male / Middle aged Langue: En Journal: Br J Haematol Année: 2018 Type de document: Article Pays d'affiliation: Italie Pays de publication: Royaume-Uni