title: Glanzmann thrombasthenia in two Iraqi-Jewish siblings is caused by a novel splice junction mutation in the glycoprotein IIb.
abstract: 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.
authors.affiliation: Institute of Thrombosis and Hemostasis, Department of Hematology, Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Yatuv
authors.forename: N
authors.initials: N
authors.lastname: Rosenberg
authors.forename: R
authors.initials: R
authors.lastname: Dardik
authors.forename: B
authors.initials: B
authors.lastname: Brenner
authors.forename: U
authors.initials: U
authors.lastname: Seligsohn
mesh_terms: 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*
chemical_list: D019039:Platelet Glycoprotein GPIIb-IIIa Complex