Literature DB >> 3924978

Investigation of a kindred with a new autosomal dominantly inherited variant type von Willebrand's disease (possible type IID).

F G Hill, M S Enayat, A J George.   

Abstract

A further type II variant of von Willebrand's disease has been identified in five family members who have the clinical symptoms of von Willebrand's disease. This variant is characterised by loss of high molecular weight VIIIR:AG multimers and the replacement of the normal triplet multimer configuration by a single dense band. In addition, variable minor bands are seen. These variants appear similar to those recently reported by Kinoshita et al and designated as type IID.

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Year:  1985        PMID: 3924978      PMCID: PMC499265          DOI: 10.1136/jcp.38.6.665

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN: 0021-9746            Impact factor:   3.411


  16 in total

1.  Assay of plasma antihaemophilic globulin (AHG).

Authors:  J G POOL; J ROBINSON
Journal:  Br J Haematol       Date:  1959-01       Impact factor: 6.998

2.  Two populations of factor VIII-related antigen in a family with von Willebrand's disease.

Authors:  H Armitage; C R Rizza
Journal:  Br J Haematol       Date:  1979-02       Impact factor: 6.998

3.  Inherited variants of factor-VIII-related protein in von Willebrand's disease.

Authors:  I R Peake; A L Bloom; J C Giddings
Journal:  N Engl J Med       Date:  1974-07-18       Impact factor: 91.245

4.  Von Willebrand's syndrome. Studies on a variant factor VIII.

Authors:  F G Hill; M C Chan; R M Hardisty
Journal:  Haemostasis       Date:  1976

5.  Variant von Willebrand's disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets.

Authors:  Z M Ruggeri; T S Zimmerman
Journal:  J Clin Invest       Date:  1980-06       Impact factor: 14.808

6.  Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease.

Authors:  Z M Ruggeri; F I Pareti; P M Mannucci; N Ciavarella; T S Zimmerman
Journal:  N Engl J Med       Date:  1980-05-08       Impact factor: 91.245

7.  A variant of factor 8 related antigen.

Authors:  P B Kernoff; R Gruson; C R Rizza
Journal:  Br J Haematol       Date:  1974-03       Impact factor: 6.998

8.  Aberrant multimeric structure of von Willebrand factor in a new variant of von Willebrand's disease (type IIC).

Authors:  Z M Ruggeri; I M Nilsson; R Lombardi; L Holmberg; T S Zimmerman
Journal:  J Clin Invest       Date:  1982-11       Impact factor: 14.808

9.  The complex multimeric composition of factor VIII/von Willebrand factor.

Authors:  Z M Ruggeri; T S Zimmerman
Journal:  Blood       Date:  1981-06       Impact factor: 22.113

10.  Quantitative assay of a plasma factor deficient in von Willebrand's disease that is necessary for platelet aggregation. Relationship to factor VIII procoagulant activity and antigen content.

Authors:  H J Weiss; L W Hoyer; F R Rickles; A Varma; J Rogers
Journal:  J Clin Invest       Date:  1973-11       Impact factor: 14.808

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  1 in total

1.  Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease.

Authors:  R Schneppenheim; J Brassard; S Krey; U Budde; T J Kunicki; L Holmberg; J Ware; Z M Ruggeri
Journal:  Proc Natl Acad Sci U S A       Date:  1996-04-16       Impact factor: 11.205

  1 in total

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