Characterization of a novel mutation in the von Willebrand factor propeptide in a distinct subtype of recessive von Willebrand disease

Thrombosis and Haemostasis

Volumn 100, Issue 2, 2008, Pages 211-216

  Lanke, Elsa ^a   Kristoffersson, Ann Charlotte ^b   Philips, Malou ^c   Holmberg, Lars ^b   Lethagen, Stefan ^a,c  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b LUND UNIVERSITY   (Sweden)

^c University of Copenhagen   (Denmark)

Author keywords

Coagulation; COS 7 cell transfection; Multimerization; Propeptide; Von Willebrand disease

Indexed keywords

BLOOD CLOTTING FACTOR 8 CONCENTRATE; HAEMATE; VON WILLEBRAND FACTOR;

ANIMAL CELL; ARTICLE; CASE REPORT; EXON; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IN VITRO STUDY; MALE; MUTAGENESIS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; RELATIVE; SYMPTOMATOLOGY; VON WILLEBRAND DISEASE;

ANIMALS; CERCOPITHECUS AETHIOPS; CHILD; COS CELLS; DIMERIZATION; EXONS; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUTAGENESIS; PHENOTYPE; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; TRANSFECTION; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 48949106846     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH08-03-0187     Document Type: Article

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