title: Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia.
authors.affiliation: a Division of Hematology, Department of Medicine , Mayo Clinic , Rochester , MN , USA.
authors.forename: Juliana
authors.initials: J
authors.lastname: Perez Botero
authors.affiliation: b Special Coagulation Laboratory, Department of Laboratory Medicine and Pathology , Mayo Clinic , Rochester , MN , USA.|c Division of Hematopathology, Department of Laboratory Medicine and Pathology , Mayo Clinic , Rochester , MN , USA.
authors.forename: Dong
authors.initials: D
authors.lastname: Chen
authors.affiliation: d Center for Individualized Medicine, Department of Health Sciences Research , Mayo Clinic , Rochester , MN , USA.
authors.forename: Margot A
authors.initials: MA
authors.lastname: Cousin
authors.affiliation: b Special Coagulation Laboratory, Department of Laboratory Medicine and Pathology , Mayo Clinic , Rochester , MN , USA.
authors.forename: Julie A
authors.initials: JA
authors.lastname: Majerus
authors.affiliation: b Special Coagulation Laboratory, Department of Laboratory Medicine and Pathology , Mayo Clinic , Rochester , MN , USA.|c Division of Hematopathology, Department of Laboratory Medicine and Pathology , Mayo Clinic , Rochester , MN , USA.
authors.forename: Lea M
authors.initials: LM
authors.lastname: Coon
authors.affiliation: d Center for Individualized Medicine, Department of Health Sciences Research , Mayo Clinic , Rochester , MN , USA.
authors.forename: Teresa M
authors.initials: TM
authors.lastname: Kruisselbrink
authors.affiliation: e Genetics and Bioinformatics, Department of Health Sciences Research , Mayo Clinic , Rochester , MN , USA.
authors.forename: Eric W
authors.initials: EW
authors.lastname: Klee
authors.affiliation: f Division of Gastroenterology and Hepatology, Department of Medicine , Mayo Clinic , Rochester , MN , USA.
authors.forename: Konstantinos N
authors.initials: KN
authors.lastname: Lazaridis
authors.affiliation: a Division of Hematology, Department of Medicine , Mayo Clinic , Rochester , MN , USA.|b Special Coagulation Laboratory, Department of Laboratory Medicine and Pathology , Mayo Clinic , Rochester , MN , USA.
authors.forename: Rajiv K
authors.initials: RK
authors.lastname: Pruthi
authors.affiliation: a Division of Hematology, Department of Medicine , Mayo Clinic , Rochester , MN , USA.
authors.forename: Mrinal M
authors.initials: MM
authors.lastname: Patnaik
mesh_terms: D000328:Adult; D001792:Blood Platelets / Q000378:metabolism* / Q000648:ultrastructure; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D005260:Female; D057895:Haploinsufficiency; D006801:Humans; D016130:Immunophenotyping; D009154:Mutation; D059365:Nonsense Mediated mRNA Decay; D010375:Pedigree; D010641:Phenotype; D012326:RNA Splicing; D063189:Symptom Assessment; D013921:Thrombocytopenia / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D000073359:Exome Sequencing
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human