A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease

British Journal of Haematology

Volumn 120, Issue 4, 2003, Pages 643-651

  Stepanian, Alain ^a   Ribba, Anne Sophie ^a,d   Lavergne, Jean Maurice ^a   Fressinaud, Edith ^a   Juhan Vague, Irene ^b   Mazurier, Claudine ^c   Girma, Jean Pierre ^a   Meyer, Dominique ^a  

^a Dept Environ Med Natl Inst Publ HIth   (Norway)

^b TIMONE HOSPITAL   (France)

^c Lab d'Ingenierie Cell et Molec   (France)

^d BICÊTRE HOSPITAL   (France)

Author keywords

COS 7 cells; Platelet glycoprotein Ib; Type 2M VWF; Von Willebrand disease; Von Willebrand factor

Indexed keywords

BOTROCETIN; COMPLEMENTARY DNA; GLYCOPROTEIN IB; MONOCLONAL ANTIBODY; POLYMER; RISTOCETIN; VON WILLEBRAND FACTOR;

ADULT; ANIMAL CELL; ARTICLE; BINDING AFFINITY; BINDING SITE; CASE REPORT; CELL STRAIN COS7; CONTROLLED STUDY; EXON; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; HYBRID; MALE; NONHUMAN; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN CONFORMATION; PROTEIN FOLDING; PROTEIN INTERACTION; SITE DIRECTED MUTAGENESIS; STRUCTURE ANALYSIS; VON WILLEBRAND DISEASE;

ADULT; ANIMALS; BINDING SITES; BLOOD PLATELETS; COS CELLS; CROTALID VENOMS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; HUMANS; MALE; MUTATION; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; PROTEIN BINDING; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; RISTOCETIN; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 0037330215     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2003.04168.x     Document Type: Article

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