A variant thrombasthenic phenotype associated with compound heterozygosity of integrin β3-subunit: (Met124Val)β 3 alters the subunit dimerization rendering a decreased number of constitutive active αIIbβ3 receptors

Thrombosis and Haemostasis

Volumn 92, Issue 6, 2004, Pages 1377-1386

  González Manchón, Consuelo ^a   Butta, Nora ^a   Larrucea, Susana ^a   Arias Salgado, Elena G ^a   Alonso, Sonia ^a   López, Angela ^a   Parrilla, Roberto ^a  

^a CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

Author keywords

IIb 3; 3 gain function mutation; Platelets; Thrombasthenia

Indexed keywords

AMINO ACID; ASPARTIC ACID; BETA3 INTEGRIN; FIBRINOGEN; FIBRINOGEN RECEPTOR; METAL ION; METHIONINE; PROTEIN SUBUNIT; THROMBOCYTE ANTIGEN; TYROSINE; VALINE;

ALLELE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CELL ADHESION; CELL AGGREGATION; CELL SURFACE; COMPLEX FORMATION; DIMERIZATION; DISEASE ASSOCIATION; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GLANZMANN DISEASE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HUMAN CELL; INFANT; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN FUNCTION;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; ANTIGENS, HUMAN PLATELET; BASE SEQUENCE; BINDING SITES; BLOOD PLATELETS; BLOTTING, WESTERN; CELL MEMBRANE; CHO CELLS; CRICETINAE; DIMERIZATION; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FAMILY HEALTH; FEMALE; FIBRINOGEN; FLOW CYTOMETRY; GENETIC VECTORS; HETEROZYGOTE; HUMANS; IMMUNOBLOTTING; INFANT; INTEGRIN BETA3; MALE; MICE; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTATION; PHENOTYPE; PLATELET ADHESIVENESS; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; PROTEIN BINDING; RNA, MESSENGER; THROMBASTHENIA; TIME FACTORS; TRANSFECTION;

EID: 10444283433     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH04-06-0380     Document Type: Article

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