Effect of c.1431C > T mutation, a causative mutation of Glanzmann's thrombasthenia, on ITGB3 splicing, gene and protein expression.

Background/aim: Recently, it was reported that the non-synonymous c.1431C > T (p. G477=) mutation of the integrin subunit β3 (ITGB3) gene is the cause of Glanzmann's thrombasthenia (GT).