GLANZMANN THROMBASTHENIA IN 2 IRAQI-JEWISH SIBLINGS IS CAUSED BY A NOVEL SPLICE JUNCTION MUTATION IN THE GLYCOPROTEIN IIB

An A-->G transition in the acceptor splice site at the jntron 19/exon 20 junction of the glycoprotein IIb gene was defined as a novel mutati on 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 p redicting deletions of 50, 61 or 72 amino acids, respectively. Blood C oag Fibrinol 9:285-288 (C) 1998 Lippincott-Raven Publishers.