Genetic alteration of the D2 domain abolishes von Willebrand factor multimerization and trafficking into storage

Journal of Thrombosis and Haemostasis

Volumn 7, Issue 4, 2009, Pages 641-650

  Haberichter, Sandra L ^a,b   Allmann, A M ^a,b   Jozwiak, M A ^c   Montgomery, R R ^a,b,c   Gill, J C ^a,b,c  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b CHILDREN S HOSPITAL OF WISCONSIN   (United States)

^c BLOOD RESEARCH INSTITUTE   (United States)

Author keywords

Von Willebrand disease; Von Willebrand factor; Weibel Palade body

Indexed keywords

AMINO ACID; ANTIBODY; CYSTEINE; GENOMIC DNA; VON WILLEBRAND FACTOR;

AGED; ALLELE; ARTICLE; BASE PAIRING; CASE REPORT; CELL STRAIN HEK293; CELLULAR DISTRIBUTION; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DNA ISOLATION; DNA SEQUENCE; EXON; FEMALE; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC TRANSFECTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; PLASMID; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; SIGNAL TRANSDUCTION; VON WILLEBRAND DISEASE; WILD TYPE;

HETEROZYGOTE; HUMANS; MUTATION; PROTEIN MULTIMERIZATION; PROTEIN SORTING SIGNALS; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; SEQUENCE DELETION; VON WILLEBRAND FACTOR;

EID: 63049092852     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2009.03290.x     Document Type: Article

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