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. [electronic resource]
- Thrombosis and haemostasis Dec 2007
- 1257-65 p. digital
Publication Type: Journal Article
0340-6245
Adult Amino Acid Sequence Animals Cell Line Cell Membrane--metabolism Cricetinae Cysteine--chemistry DNA Mutational Analysis Disulfides--chemistry Family Female Founder Effect Genotype Haplotypes Homozygote Humans Integrin alpha2--blood Jordan Male Molecular Sequence Data Mutation Pedigree Phenotype Platelet Glycoprotein GPIIb-IIIa Complex--chemistry Protein Conformation Protein Structure, Tertiary Sequence Alignment Severity of Illness Index Thrombasthenia--blood Transfection