An assessment of the pathogenic significance of the R924Q von Willebrand factor substitution

Journal of Thrombosis and Haemostasis

Volumn 7, Issue 10, 2009, Pages 1672-1679

  Berber, E ^a   James, P D ^b   Hough, C ^a   Lillicrap, D ^a  

^a Departments of Pathology and Molecular Medicine   (Canada)

^b QUEEN S UNIVERSITY   (Canada)

Author keywords

R924Q; RNA splicing; Von Willebrand disease; Von Willebrand factor

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8B; MESSENGER RNA; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR;

ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CELL STRAIN COS7; CONTROLLED STUDY; ENDOTHELIUM CELL; EXON; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE TEST; IN VITRO STUDY; INTRACELLULAR TRANSPORT; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; PROTEIN SYNTHESIS; RNA ANALYSIS; RNA PROCESSING; RNA SPLICING; SPLICING DEFECT; VON WILLEBRAND DISEASE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; CANADA; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; COS CELLS; ENDOTHELIAL CELLS; EXONS; FEMALE; GENE FREQUENCY; GENETIC VARIATION; HAPLOTYPES; HETEROZYGOTE; HUMANS; MICE; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ISOFORMS; PROTEIN TRANSPORT; RECOMBINANT FUSION PROTEINS; RNA SPLICING; RNA, MESSENGER; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR;

EID: 70350035716     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2009.03551.x     Document Type: Article

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