Study on genetic mutations of the vWF in type 2A von Willebrand disease

Chinese Journal of Medical Genetics

Volumn 17, Issue 4, 2000, Pages 229-232

  Wang, Y ^a   Zhang, J ^a   Zhang, W ^a   Cheng, D ^a   Wan, H ^a   Ruan, C ^a  

^a Jiangsu Institute of Hematology   (China)

Author keywords

Denaturing gradient gel electrophoresis; Gene mutation; Polymerase chain reaction; Type 2A von Willebrand disease; Von Willebrand factor gene

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PHENOTYPE; POINT MUTATION; VON WILLEBRAND DISEASE;

ADOLESCENT; ADULT; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 0033856952     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Molecular genetics of von Willebrand disease
2. Commentary a new classification for von Willebrand disease
3. An enzyme linked immunosorbent assay using monoclonal antibodes to von Willebrand factor and its clinical application
4. Variant von Willebrand disease characterization of two subtypes by analysis of multimeric composition of factor FVIII/von Willebrand factor in plasma and platelets
5. Mutation (Ala 737→Glu) in type 2A von Willebrand disease
6. Characterization of Leu777Por and Ile865Thr type I A von Willebrand disease mutations
7. Impaired intracellular transport produced by a subset of type 2A von Willebrand disease mutation
8. Identification of two mutations (Arg611Cys and Arg611His) in the A loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease decreased platelet-dependent function of vWF
9. Von Willebrand disease: A database of point mutation, insertions and deletions (for the consortium on von Willebrand factor mutations and polymorphisms and subcommittee on von Willebrand factor of the SSC of the ISTH)
10. A database of polymorphisms in the von Willebrand factor gene and pseudogene