Glanzmann's Thrombasthenia

Gene involved
ITGA2B

Mutation tested
c.1373ins14bp

Transmission mode : Autosomal recessive

Publication : Lipscomb et al. (2000). Two genetic defects in alphaIIb are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: a 14-base insertion in exon 13 and a splicing defect of intron 13.