Ganzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA - Simsek, S; Heyboer, H; de Bruijne-Admiraal, LG; Goldschmeding, R; Cuijpers, HT; M, van dem Borne, AEGKr (Blood, 1993)