TY - GEN AU - González-Manchón,Consuelo AU - Butta,Nora AU - Larrucea,Susana AU - Arias-Salgado,Elena G AU - Alonso,Sonia AU - López,Angela AU - Parrilla,Roberto TI - 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 SN - 0340-6245 PY - 2005///0714 KW - Alleles KW - Amino Acid Sequence KW - Animals KW - Antigens, Human Platelet KW - genetics KW - Base Sequence KW - Binding Sites KW - Blood Platelets KW - metabolism KW - Blotting, Western KW - CHO Cells KW - Cell Membrane KW - Cricetinae KW - DNA Mutational Analysis KW - DNA, Complementary KW - Dimerization KW - Family Health KW - Female KW - Fibrinogen KW - Flow Cytometry KW - Genetic Vectors KW - Heterozygote KW - Humans KW - Immunoblotting KW - Infant KW - Integrin beta3 KW - chemistry KW - Male KW - Mice KW - Microscopy, Fluorescence KW - Molecular Sequence Data KW - Mutagenesis KW - Mutation KW - Phenotype KW - Platelet Adhesiveness KW - Platelet Glycoprotein GPIIb-IIIa Complex KW - Protein Binding KW - RNA, Messenger KW - Thrombasthenia KW - blood KW - Time Factors KW - Transfection N1 - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1160/TH04-06-0380 ER -