title: Identification and molecular characterization of a novel 3&#x2032; mutation in RUNX1 in a family with familial platelet disorder.
authors.forename: Jane E
authors.initials: JE
authors.lastname: Churpek
authors.forename: Jacqueline S
authors.initials: JS
authors.lastname: Garcia
authors.forename: Jozef
authors.initials: J
authors.lastname: Madzo
authors.forename: Sarah A
authors.initials: SA
authors.lastname: Jackson
authors.forename: Kenan
authors.initials: K
authors.lastname: Onel
authors.forename: Lucy A
authors.initials: LA
authors.lastname: Godley
mesh_terms: D000208:Acute Disease; D001483:Base Sequence; D001791:Blood Platelet Disorders / Q000235:genetics*; D018389:Codon, Nonsense; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D018389:Codon, Nonsense; D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human