Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients

Thrombosis and Haemostasis

Volumn 108, Issue 4, 2012, Pages 662-671

  Yadegari, Hamideh ^a   Driesen, Julia ^a   Pavlova, Anna ^a   Biswas, Arijit ^a   Hertfelder, Hans Jörg ^a   Oldenburg, Johannes ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

von Willebrand disease; VWD phenotype; VWD types; VWF A1 domain; VWF mutations

Indexed keywords

VON WILLEBRAND FACTOR;

AGAR GEL ELECTROPHORESIS; ARTICLE; BLOOD CLOTTING TEST; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NULL ALLELE; PHENOTYPE; PRIORITY JOURNAL; SPLICE SITE MUTATION; VON WILLEBRAND DISEASE; WESTERN BLOTTING;

AMINO ACID SUBSTITUTION; CODON, NONSENSE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MODELS, MOLECULAR; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; RNA SPLICE SITES; SEQUENCE DELETION; VON WILLEBRAND DISEASE, TYPE 1; VON WILLEBRAND DISEASE, TYPE 2; VON WILLEBRAND DISEASE, TYPE 3; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR;

EID: 84867246111     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH12-02-0089     Document Type: Article

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