Concerns about the Mutations Identified in a Case of Familial Coagulation Factor V Deficiency: Factor V Stanford

Thromb Haemost 2000; 84(06): 1131-1132
DOI: 10.1055/s-0037-1614191

Letters to the Editor

Schattauer GmbH

Maria Claudia Montefusco

¹From the Department of Biology and Genetics for Medical Sciences, University of Milan, Italy

,

Rosanna Asselta

¹From the Department of Biology and Genetics for Medical Sciences, University of Milan, Italy

,

Richard van Wijk

²Department of Clinical Chemistry, Eemland Hospital, Utrehtseweg, The Netherlands

,

Stefano Duga

¹From the Department of Biology and Genetics for Medical Sciences, University of Milan, Italy

,

Maria Luisa Tenchini

¹From the Department of Biology and Genetics for Medical Sciences, University of Milan, Italy

References
1 Zehnder JL, Hiraki DD, Jones CD, Gross N, Grumet FC. Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. Thromb Haemost 1999; 82: 1097-9.
2 Jenny RJ, Pittman DD, Toole JJ, Kriz RW, Aldape RA, Hewick RM, Kaufman RJ, Mann KG. Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci USA 1987; 84: 4846-50.
3 Guasch JF, Lensen RP, Bertina RM. Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is »pseudo homozygous« for activated protein C resistance. Thromb Haemost 1997; 77: 252-7.