Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis

Clinical and Laboratory Haematology

Volumn 20, Issue 3, 1998, Pages 177-178

  Culpan, D ^a   Goodeve, A ^b   Bowen, D J ^c   Standen, G ^a,d   Bidwell, J ^a  

^a UNIVERSITY OF BRISTOL   (United Kingdom)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d BRISTOL ROYAL INFIRMARY   (United Kingdom)

Author keywords

Heteroduplex analysis; Mutations; Von Willebrand's disease

Indexed keywords

HETERODUPLEX;

ARTICLE; CLINICAL ARTICLE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; PRIORITY JOURNAL; VON WILLEBRAND DISEASE;

DNA; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; GENOTYPE; HUMANS; NUCLEIC ACID HYBRIDIZATION; PHENOTYPE; POINT MUTATION; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 0031809956     PISSN: 01419854     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2257.1998.00111.x     Document Type: Article

References (3)

1. Culpan D., Standen G., Wood N., Mazurier C., Gaucher C. & Bidwell J. (1997) Rapid mutation screening in type 2A von Willebrand's disease using universal heteroduplex generators. British Journal of Haematology 96, 464-469.
2. Ginsburg D. & Sadler J.E. (1993) von Willebrand disease: a database of point mutations, insertions, and deletions. Thrombosis and Haemostasis 69, 177-184.
3. Hilbert L., Gaucher C. & Mazurier C. (1995) Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of wWF. Blood 86, 1010-1018.