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Literature DB >> 310328

[A variant of the von Willebrand-Jürgens-syndrome with abnormalities of the factor VIII/von Willebrand factor protein (author's transl)].

Abstract

A family is reported with a variant of von Willebrand's disease. The members of this family showed a qualitative defect of the factor VII/von Willebrand factor protein. The qualitative defect was characterized by an abnormal electrophoretical mobility of factor VIII-related antigen and an abnormal elution pattern as demonstrated by gelfiltration on Sepharose 4 B. Factor VIII-subunits in these patients were found to be normal by polyacrylamidgelelektrophoresis.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 1979 PMID： 310328 DOI： 10.1007/bf01082925

Source DB: PubMed Journal: Blut ISSN： 0006-5242

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References

18 in total

1. Carbohydrate deficiency of the factor VIII/von Willebrand factor Protein in von Willebrand's disease variants.

Authors: H R Gralnick; B S Coller; Y Sultan
Journal: Science Date: 1976-04-02 Impact factor: 47.728

2. Electrophoretic heterogeneity of normal factor VIII/Von Willebrand protein, and abnormal electrophoretic mobility in patients with Von Willebrand's disease.

Authors: Y Sultan; J Simeon; J P Caen
Journal: J Lab Clin Med Date: 1976-02

3. Proceedings: An abnormality of factor-VIII-related protein (FVIIIRP)--possible variants of von Willebrand's disease.

Authors: I R Peake; J C Giddings; A L Bloom
Journal: Br J Haematol Date: 1974-09 Impact factor: 6.998

4. Willebrand factor and ristocetin. II. Relationship between Willebrand factor, Willebrand antigen and factor VIII activity.

Authors: D Meyer; C S Jenkins; M D Dreyfus; E Fressinaud; M J Larrieu
Journal: Br J Haematol Date: 1974-12 Impact factor: 6.998

9. Studies of the human factor VIII/von Willebrand's factor protein. II. Identification and characterization of the von Willebrand protein.

Authors: H R Gralnick; B S Coller
Journal: Blood Date: 1975-09 Impact factor: 22.113

10. Studies of the human factor VIII/von Willebrand's factor protein I. Comparison of the protein found in normal, von Willebrand's disease and hemophilia A.

Authors: H R Gralnick; B S Coller; S L Marchesi
Journal: Thromb Res Date: 1975-02 Impact factor: 3.944

[A variant of the von Willebrand-Jürgens-syndrome with abnormalities of the factor VIII/von Willebrand factor protein (author's transl)].

1. Carbohydrate deficiency of the factor VIII/von Willebrand factor Protein in von Willebrand's disease variants.

2. Electrophoretic heterogeneity of normal factor VIII/Von Willebrand protein, and abnormal electrophoretic mobility in patients with Von Willebrand's disease.

3. Proceedings: An abnormality of factor-VIII-related protein (FVIIIRP)--possible variants of von Willebrand's disease.

4. Willebrand factor and ristocetin. II. Relationship between Willebrand factor, Willebrand antigen and factor VIII activity.

5. Letter: 8-related antigen and von Willebrand factor.

6. Glycoprotein staining following electrophoresis on acrylamide gels.

7. A variant of factor 8 related antigen.

8. Studies of the human factor VIII/von Willebrand factor protein. III. Qualitative defects in von Willebrand's disease.

9. Studies of the human factor VIII/von Willebrand's factor protein. II. Identification and characterization of the von Willebrand protein.

10. Studies of the human factor VIII/von Willebrand's factor protein I. Comparison of the protein found in normal, von Willebrand's disease and hemophilia A.