A variant thrombasthenic phenotype associated with compound heterozygosity of integrin beta3-subunit: (Met124Val)beta3 alters the subunit dimerization rendering a decreased number of constitutive active alphaIIbbeta3 receptors. [electronic resource]
- Thrombosis and haemostasis Dec 2004
- 1377-86 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0340-6245
10.1160/TH04-06-0380 doi
Alleles Amino Acid Sequence Animals Antigens, Human Platelet--genetics Base Sequence Binding Sites Blood Platelets--metabolism Blotting, Western CHO Cells Cell Membrane--metabolism Cricetinae DNA Mutational Analysis DNA, Complementary--metabolism Dimerization Family Health Female Fibrinogen--metabolism Flow Cytometry Genetic Vectors Heterozygote Humans Immunoblotting Infant Integrin beta3--chemistry Male Mice Microscopy, Fluorescence Molecular Sequence Data Mutagenesis Mutation Phenotype Platelet Adhesiveness Platelet Glycoprotein GPIIb-IIIa Complex--chemistry Protein Binding RNA, Messenger--metabolism Thrombasthenia--blood Time Factors Transfection