Advances in Human Genetics 11
Springer-Verlag New York Inc.
978-1-4615-8305-9 (ISBN)
1 The Pi Polymorphism: Genetic, Biochemical, and Clinical Aspects of Human ?1-Antitrypsin.- Historical Review.- Pi Variants.- Biochemical Aspects.- Metabolism of ?1-Antitrypsin.- Association between Pi Types and Disease.- Protease Inhibitor Systems and Disease Mechanisms.- Unresolved Problems.- References.- 2 Segregation Analysis.- Mathematical Formulation of Genetic Models.- The Likelihood Method.- Examples of Segregation Analysis.- Conclusion.- Appendix: Notes on Computational Methods.- References.- 3 Genetic, Metabolic, and Biochemical Aspects of the Porphyrias.- Tetrapyrroles.- Enzymes and Intermediates of the Heme Biosynthetic Pathway.- Regulation of Enzymes of Heme Biosynthesis.- Classification of the Human Porphyrias.- References.- 4 The Molecular Genetics of Thalassemia.- The New Genetics.- The Nature of Thalassemias.- DNA Polymorphisms in the ?-like Globin Gene Cluster.- Prenatal Diagnosis of Hemoglobin Disorders by DNA Analysis.- Additional Approaches to the Correlation of Gene Structure and Function.- Summary and Conclusions.- References.- 5 Advances in the Treatment of Inherited Metabolic Diseases.- Metabolic Manipulation.- Gene Product Therapy.- Enzyme Replacement Therapy.- Gene Therapy.- References.- Addenda.
| Reihe/Serie | Advances in Human Genetics ; 11 |
|---|---|
| Zusatzinfo | 13 Illustrations, black and white |
| Verlagsort | New York, NY |
| Sprache | englisch |
| Maße | 152 x 229 mm |
| Themenwelt | Sachbuch/Ratgeber ► Natur / Technik ► Naturführer |
| Medizin / Pharmazie ► Medizinische Fachgebiete | |
| Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
| ISBN-10 | 1-4615-8305-5 / 1461583055 |
| ISBN-13 | 978-1-4615-8305-9 / 9781461583059 |
| Zustand | Neuware |
| Informationen gemäß Produktsicherheitsverordnung (GPSR) | |
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