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]
Producer: 20050714Description: 1377-86 p. digitalISSN:- 0340-6245
- 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
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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