- 368 pages
- English
- ePUB (mobile friendly)
- Available on iOS & Android
About this book
Thrombotic disease is a major cause of death and disablement in Western society. The most common causes is an inherited defect in one of the many genes encoding a protein which is involved in clotting, It's regulation or the process of clot dissolution, Fibrinolysis.
Venous Thrombosis: from genes to clinical medicine, presents our current knowledge of potentially prothrombotic protein at modalities, together with the 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 multifaceted 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 multi gene disorder. The potential roles of both aesthetic interactions and environmental risk factors are also discussed. This book will be of value to haematologists, genetic counsellors and clinical geneticists.
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Information
Table of contents
- Cover
- Half Title
- Series
- Title
- Copyright
- Contents
- Abbreviation
- Preface
- Acknowledgements
- Foreword
- 1 Introduction
- 2 Pathological mutations: DNA sequence and protein structure
- 3 Evolution of the vitamin K-dependent coagulation factors
- 4 Antithrombin III and antithrombin III deficiency
- 5 Protein C and protein C deficiency
- 6 Protein S and protein S deficiency
- 7 Factor V and activated protein C resistance
- 8 Thrombomodulin and its deficiency state
- 9 Plasminogen and its deficiency
- 10 Heparin cofactor II
- 11 Factor XII deficiency
- 12 Fibrinogen and the dysfibrinogenaemias causing venous thrombosis
- 13 Defects of the fibrinolytic pathway associated with thrombotic disease
- 14 Other potential causes of familial thrombotic disease
- 15 The epidemiology of venous thrombosis
- References
- Appendix: Single base-pair substitutions causing venous thrombosis
- Index