A Founder Factor VII Mutation, Valine 2016 to Alanine, in a Population with an Extraordinarily High Prevalence of Mild Hemophilia A

Y.-G. Xie; H. Zheng; J. Leggo; M.-F. Scully; D. Lillicrap

doi:10.1055/s-0037-1612968

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2002; 87(01): 178-179
DOI: 10.1055/s-0037-1612968

Letters to the Editor

Schattauer GmbH

A Founder Factor VII Mutation, Valine 2016 to Alanine, in a Population with an Extraordinarily High Prevalence of Mild Hemophilia A

Authors

Y.-G. Xie

¹Department of Laboratory Medicine, Memorial University of Newfoundland, St. John’s, NF, Canada

²Genetics, Memorial University of Newfoundland, St. John’s, NF, Canada

³Pediatrics, Memorial University of Newfoundland, St. John’s, NF, Canada
H. Zheng

¹Department of Laboratory Medicine, Memorial University of Newfoundland, St. John’s, NF, Canada
J. Leggo

⁵Dept. of Pathology, Queen’s University, Kingston, ON, Canada
M.-F. Scully

⁴Medicine, Memorial University of Newfoundland, St. John’s, NF, Canada
D. Lillicrap

⁵Dept. of Pathology, Queen’s University, Kingston, ON, Canada

Abstract

Full Text

References

References
1 Girma JP, Fressinaud E, Houllier A, Laurian Y, Amiral J, Meyer D. Assay of factor VIII antigen (VII:CAg) in 294 haemophilia A patients by a new commercial ELISA using monoclonal antibodies. Haemophilia 1998; 04: 98-103.
2 Wood WI, Capon DJ, Simonsen CC. et al. Expression of active human factor VIII from recombinant DNA clones. Nature 1984; 312: 330-6.
3 Markoff A, Sormbroen H, Bogdanova N. et al. Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols. Eur J Hum Genet 1998; 06: 145-50.
4 Williams IJ, Abuzenadah A, Winship PR. et al. Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. Thromb Haemost 1998; 79: 723-6.
5 Sentinelli F, Lovari S, Vitale M, Giorgi G, Di Mario U, Baroni MG. A simple method for non-radioactive PCR-SSCP using MDE gel solution and a midi gel format: application for the detection of variants in the GLUT1 and CTLA-4 genes. J Biotechnol 2000; 78: 201-4.
6 Waseem NH, Bagnall R, Green PM, Giannelli F. Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres. Thromb Haemost 1999; 81: 900-5.
7 Pemberton S, Lindley P, Zaitsev V, Card G, Tuddenham EG, Kemball-Cook G. A molecular model for the triplicated A domains of human factor VIII based on the crystal structure of human ceruloplasmin. Blood 1997; 89: 2413-21.
8 Lenting PJ, van de Loo JW, Donath MJ, Van Mourik JA, Mertens K. The sequence Glul811-Lysl818 of human blood coagulation factor VIII comprises a binding site for activated factor IX. J Biol Chem 1996; 271: 1935-40.