Glanzmann thrombasthenia in two 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 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.
Yatuv
R
R
Institute of Thrombosis and Hemostasis, Department of Hematology, Sheba Medical Center, Tel-Hashomer, Israel.
Rosenberg
N
N
Dardik
R
R
Brenner
B
B
Seligsohn
U
U
D000368:Aged; D001483:Base Sequence; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D007493:Iraq / Q000208:ethnology; D007557:Israel; D007585:Jews / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D019039:Platelet Glycoprotein GPIIb-IIIa Complex / Q000235:genetics*; D017354:Point Mutation; D012326:RNA Splicing; D013915:Thrombasthenia / Q000235:genetics*
D019039:Platelet Glycoprotein GPIIb-IIIa Complex