Glanzmann thrombasthenia Frankfurt I is associated with a point mutation Thr176IIe in the N-terminal region of αIIb subunit integrin

Thrombosis and Haemostasis

Volumn 92, Issue 5, 2004, Pages 1040-1051

  Westrup, Dagmar ^a   Santoso, Sentot ^b   Follert Hagendorff, Katja ^a   Bassus, Steffen ^a   Just, Melitta ^c   Jablonka, Bernd ^c   Kirchmaier, Carl M ^a  

^a DEUTSCHE KLINIK FÜR DIAGNOSTIK   (Germany)

^b JUSTUS LIEBIG UNIVERSITY   (Germany)

^c SANOFI AVENTIS DEUTSCHLAND GMBH   (Germany)

Author keywords

propeller; Bleeding disorder; Integrin; Platelet

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; CYSTEINE; DIMER; FIBRINOGEN; FIBRINOGEN RECEPTOR; ISOLEUCINE; ISOPROTEIN; PROTEIN SUBUNIT; THREONINE;

ADULT; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ANIMAL CELL; ARTICLE; CASE REPORT; CELL LEVEL; DATA ANALYSIS; DISEASE ASSOCIATION; DNA SEQUENCE; FEMALE; GENETIC ANALYSIS; GLANZMANN DISEASE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAMMAL CELL; MOLECULAR GENETICS; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STRUCTURE; THROMBOCYTE; WILD TYPE;

BLOOD COAGULATION TESTS; DNA MUTATIONAL ANALYSIS; FEMALE; FIBRINOGEN; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; PLATELET ADHESIVENESS; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; PLATELET MEMBRANE GLYCOPROTEIN IIB; POINT MUTATION; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; RNA, MESSENGER; THROMBASTHENIA;

EID: 9144221480     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH04-03-0170     Document Type: Article

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