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ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.
Bottega, Roberta; Marconi, Caterina; Faleschini, Michela; Baj, Gabriele; Cagioni, Claudia; Pecci, Alessandro; Pippucci, Tommaso; Ramenghi, Ugo; Pardini, Simonetta; Ngu, Loretta; Baronci, Carlo; Kunishima, Shinji; Balduini, Carlo L; Seri, Marco; Savoia, Anna; Noris, Patrizia.
Afiliação
  • Bottega R; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico Burlo Garofolo, Trieste, Italy;
  • Marconi C; Genetica Medica, Dipartimento di Scienze Mediche Chirurgiche, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy;
  • Faleschini M; Department of Medical Sciences and.
  • Baj G; Department of Life Sciences, University of Trieste, Trieste, Italy;
  • Cagioni C; Department of Internal Medicine, University of Pavia, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;
  • Pecci A; Department of Internal Medicine, University of Pavia, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;
  • Pippucci T; Genetica Medica, Dipartimento di Scienze Mediche Chirurgiche, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy;
  • Ramenghi U; Hematology Unit, Pediatric Department, University of Torino, Torino, Italy;
  • Pardini S; Istituto di Ematologia, Azienda Ospedaliero-Universitaria di Sassari, Sassari, Italy;
  • Ngu L; Royal Devon & Exeter Hospital, Devon, United Kingdom;
  • Baronci C; Department of Pediatric Hematology and Oncology, Pediatric Hospital "Bambino Gesù", Rome, Italy; and.
  • Kunishima S; Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan.
  • Balduini CL; Department of Internal Medicine, University of Pavia, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;
  • Seri M; Genetica Medica, Dipartimento di Scienze Mediche Chirurgiche, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy;
  • Savoia A; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico Burlo Garofolo, Trieste, Italy; Genetica Medica, Dipartimento di Scienze Mediche Chirurgiche, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy; Department of Medical Sciences and.
  • Noris P; Department of Internal Medicine, University of Pavia, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;
Blood ; 125(5): 869-72, 2015 Jan 29.
Article em En | MEDLINE | ID: mdl-25361813

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Trombocitopenia / Plaquetas / Actinina / Mutação de Sentido Incorreto Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Blood Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Trombocitopenia / Plaquetas / Actinina / Mutação de Sentido Incorreto Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Blood Ano de publicação: 2015 Tipo de documento: Article