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.
|Number of pages||4|
|Journal||Blood Coagulation and Fibrinolysis|
|State||Published - 1998|
- Glanzmann thrombasthenia
- Glycoprotein IIb