Venous Thrombosis: From Genes to Clinical Medicine: The Molecular Genetics of an Archetypal Multigene Disorder (Human Molecular Genetics)

Thrombotic disease is a major cause of death and disablement in Western society. The most common cause is an inherited defect in one of the many genes encoding a protein which is involved in clotting, its regulation or the process of clot dissolution, fibrinolysis.
Venous Thrombosis: From Genes to Clinical Medicine presents our current knowledge of potential prothrombotic protein abnormalities, together with a clear and concise views of the roles these proteins play in haemostasis, and the use of molecular techniques in the analysis and diagnosis of inherited defects. Each chapter describes a specific protein deficiency, with information on protein structure, function and biochemistry, gene structure and expression, as well as epidemiological and molecular genetic aspects of the deficiency state.
This multi-faceted approach aims to examine the possible causes of venous thrombosis, to explain the underlying molecular defects and to explore the genotype-phenotype relationship in this complex multigene disorder. The potential roles of both epistatic interactions and environmental risk factors are also discussed. Venous Thrombosis: From Genes to Clinical Medicine will be of value to haematologists, genetic counselors, and clinical geneticists.