Mor-Cohen, Ronit

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