A novel case of compound heterozygosity with ?Normandy?/type I von Willebrand disease (vWD). Direct demonstration of the segregation of one allele with a defective expression at the mRNA level causing type I vWD

This publication has 25 references indexed in Scilit:

• A database of polymorphisms in the von Willebrand factor gene and pseudogene. For the Consortium on von Willebrand Factor Mutations and Polymorphisms and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.
  1993
• von Willebrand disease: a database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.
  1993
• The mutation Arg (53)----Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor.
  1992
• Mutations in Severe, Type III von Willebrand’s Disease in the Dutch Population: Candidate Missense and Nonsense Mutations Associated with Reduced Levels of von Willebrand Factor Messenger RNA
  Thrombosis and Haemostasis, 1992
• Duplication of a methionine within the glycoprotein Ib binding domain of von Willebrand factor detected by denaturing gradient gel electrophoresis in a patient with type IIB von Willebrand disease.
  1991
• Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease.
  Journal of Biological Chemistry, 1991
• Evidence for a von Willebrand factor defect in factor VIII binding in three members of a family previously misdiagnosed mild haemophilia A and haemophilia A carriers: consequences for therapy and genetic counselling
  British Journal of Haematology, 1990
• A NEW VONWILLEBRAND-FACTOR (VWF) DEFECT IN A PATIENT WITH FACTOR-VIII (FVIII) DEFICIENCY BUT WITH NORMAL LEVELS AND MULTIMERIC PATTERNS OF BOTH PLASMA AND PLATELET VWF - CHARACTERIZATION OF ABNORMAL VWF/FVIII INTERACTION
  1990
• EPIDEMIOLOGIC INVESTIGATION OF THE PREVALENCE OF VONWILLEBRANDS DISEASE
  1987
• Nucleotide sequence of pre-pro-von Willebrand factor cDNA
  Nucleic Acids Research, 1986