Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X)

Thrombosis and Haemostasis

Volumn 88, Issue 3, 2002, Pages 421-426

  Lethagen, Stefan ^a   Isaksson, Christina ^a   Schaedel, Charlotta ^a   Holmberg, Lars ^a  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

COS 7 cell transfection; Mutation; Von Willebrand's disease

Indexed keywords

METHIONINE; THREONINE; VON WILLEBRAND FACTOR;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BLEEDING DISORDER; CELL LEVEL; CELL STRAIN COS7; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; DIMERIZATION; DISEASE SEVERITY; FAMILIAL INCIDENCE; FEMALE; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; MALE; MISSENSE MUTATION; NULL ALLELE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN SECRETION; PROTEIN SYNTHESIS; THROMBOCYTE FUNCTION; VON WILLEBRAND DISEASE; ANIMAL; CASE REPORT; CELL STRAIN COS1; FAMILY HEALTH; GENETICS; HETEROZYGOTE; METABOLISM; MIDDLE AGED; PEDIGREE; PROTEIN TERTIARY STRUCTURE; SECRETION; STOP CODON;

ANIMALS; CODON, NONSENSE; COS CELLS; DIMERIZATION; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; TRANSFECTION; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 0036715153     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613232     Document Type: Article

References (30)

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10. Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease
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12. Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor
13. Conformational changes in the D′ domain of von Willebrand factor induced by Cys25 and Cys95 mutations lead to factor VIII binding defect and multimeric impairment
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15. Heterogeneity of type 1 von Willebrand disease: Evidence for a subgroup with an abnormal von Willebrand factor
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