title: Mutations of RUNX1 in families with inherited thrombocytopenia.
authors.affiliation: Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy.
authors.forename: Daniela
authors.identifier: 0000-0002-4536-9798
authors.initials: D
authors.lastname: De Rocco
authors.affiliation: Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Melazzini
authors.affiliation: Department of Medical and Surgical Science, Policlinico Sant'Orsola Malpighi and University of Bologna, Bologna, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Marconi
authors.affiliation: Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pecci
authors.affiliation: Department of Medical Sciences, University of Trieste, Trieste, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Bottega
authors.affiliation: Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Gnan
authors.affiliation: Department of Medical and Surgical Science, Policlinico Sant'Orsola Malpighi and University of Bologna, Bologna, Italy.
authors.forename: Flavia
authors.initials: F
authors.lastname: Palombo
authors.affiliation: Department of Biomedical Science and Human Oncology, Clinical Pediatrics "B. Trambusti," University of Bari, Bari, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Giordano
authors.affiliation: U.O.C of Pediatrics, Hospital "D. Camberlingo", Francavilla Fontana, Brindisi, Italy.
authors.forename: Maria Susanna
authors.initials: MS
authors.lastname: Coccioli
authors.affiliation: IDIM-CONICET, Instituto de Investigaciones Médicas Alfredo Lanari, Universidad de Buenos Aires, Buenos Aires, Argentina.
authors.forename: Ana C
authors.initials: AC
authors.lastname: Glembotsky
authors.affiliation: IDIM-CONICET, Instituto de Investigaciones Médicas Alfredo Lanari, Universidad de Buenos Aires, Buenos Aires, Argentina.
authors.forename: Paula G
authors.initials: PG
authors.lastname: Heller
authors.affiliation: Department of Medical and Surgical Science, Policlinico Sant'Orsola Malpighi and University of Bologna, Bologna, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Seri
authors.affiliation: Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy.|Department of Medical Sciences, University of Trieste, Trieste, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Savoia
authors.affiliation: Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Noris
mesh_terms: D000328:Adult; D001792:Blood Platelets / Q000648:ultrastructure; D048429:Cell Size; D002648:Child; D002675:Child, Preschool; D050676:Core Binding Factor Alpha 2 Subunit / Q000737:chemistry / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D000072417:Protein Domains / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics; D017384:Sequence Deletion; D013920:Thrombocythemia, Essential / Q000097:blood / Q000235:genetics*; D013926:Thrombopoietin / Q000097:blood; D015533:Transcriptional Activation / Q000235:genetics; D055815:Young Adult
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D022821:RNA Splice Sites; C493728:RUNX1 protein, human; D013926:Thrombopoietin