Identification and molecular characterization of a novel 3&#x2032; mutation in RUNX1 in a family with familial platelet disorder.
Churpek
Jane E
JE
Garcia
Jacqueline S
JS
Madzo
Jozef
J
Jackson
Sarah A
SA
Onel
Kenan
K
Godley
Lucy A
LA
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
D018389:Codon, Nonsense; D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human