TY - GEN AU - Mor-Cohen,Ronit AU - Rosenberg,Nurit AU - Peretz,Hava AU - Landau,Meytal AU - Coller,Barry S AU - Awidi,Abdalla AU - Seligsohn,Uri TI - Disulfide bond disruption by a beta 3-Cys549Arg mutation in six Jordanian families with Glanzmann thrombasthenia causes diminished production of constitutively active alpha IIb beta 3 SN - 0340-6245 PY - 2008///0226 KW - Adult KW - Amino Acid Sequence KW - Animals KW - Cell Line KW - Cell Membrane KW - metabolism KW - Cricetinae KW - Cysteine KW - chemistry KW - DNA Mutational Analysis KW - Disulfides KW - Family KW - Female KW - Founder Effect KW - Genotype KW - Haplotypes KW - Homozygote KW - Humans KW - Integrin alpha2 KW - blood KW - Jordan KW - Male KW - Molecular Sequence Data KW - Mutation KW - Pedigree KW - Phenotype KW - Platelet Glycoprotein GPIIb-IIIa Complex KW - Protein Conformation KW - Protein Structure, Tertiary KW - Sequence Alignment KW - Severity of Illness Index KW - Thrombasthenia KW - Transfection N1 - Publication Type: Journal Article ER -