González-Manchón, Consuelo

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