Glanzmann thrombasthenia in two Iraqi-Jewish siblings is caused by a novel splice junction mutation in the glycoprotein IIb.

@article{Yatuv1998GlanzmannTI,
  title={Glanzmann thrombasthenia in two Iraqi-Jewish siblings is caused by a novel splice junction mutation in the glycoprotein IIb.},
  author={Rivka Yatuv and Nurit Rosenberg and Rima Dardik and Bernhard Brenner and Uri Seligsohn},
  journal={Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis},
  year={1998},
  volume={9 3},
  pages={285-8}
}
An A-->G transition in the acceptor splice site at the intron 19/exon 20 junction of the glycoprotein IIb gene was defined as a novel mutation causing Glanzmann thrombasthenia in two Iraqi-Jewish siblings. This mutant DNA was transcribed into four distinct species of mRNA, one of which resulted in a premature termination codon and the other three predicting deletions of 50, 61 or 72 amino acids, respectively.