A Leu117 → Trp mutation within the RGD-peptide cross-linking region of β3 results in Glanzmann thrombasthenia by preventing αIIbβ3 export to the platelet surface

Blood

Volumn 90, Issue 8, 1997, Pages 3082-3088

  Basani, Ramesh B ^a   Brown, Deborah L ^a   Vilaire, Gaston ^a   Bennett, Joel S ^a   Poncz, Mortimer ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FIBRINOGEN; INTEGRIN; LEUCINE; MONOCLONAL ANTIBODY; RECOMBINANT PROTEIN; TRYPTOPHAN; ARGINYL-GLYCYL-ASPARTIC ACID; ARGINYLGLYCYLASPARTIC ACID; FIBRINOGEN RECEPTOR; OLIGOPEPTIDE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; CROSS LINKING; FEMALE; GENE MUTATION; GLANZMANN DISEASE; HUMAN; HUMAN CELL; NEWBORN; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; THROMBOCYTE DISORDER; ALLELE; AMINO ACID SEQUENCE; ANIMAL; CELL STRAIN COS1; FLOW CYTOMETRY; GENETICS; INFANT; METABOLISM; MOLECULAR GENETICS; MUTATION; PROTEIN CONFORMATION; SURFACE PROPERTY; THROMBOCYTE;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BLOOD PLATELETS; COS CELLS; FLOW CYTOMETRY; HUMANS; INFANT; LEUCINE; MOLECULAR SEQUENCE DATA; MUTATION; OLIGOPEPTIDES; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; PROTEIN CONFORMATION; SURFACE PROPERTIES; THROMBASTHENIA; TRYPTOPHAN;

EID: 0030612882     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v90.8.3082     Document Type: Article

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