Advances in Human Genetics 11
Published on 1. February 2013
Book
Paperback/Softback
XIX, 385 pages
978-1-4615-8305-9 (ISBN)
More details
Series
Edition
Softcover reprint of the original 1st ed. 1981
Language
English
Place of publication
New York
United States
Target group
Professional and scholarly
Research
Illustrations
13 s/w Abbildungen
XIX, 385 p. 13 illus.
Dimensions
Height: 229 mm
Width: 152 mm
Thickness: 23 mm
Weight
589 gr
ISBN-13
978-1-4615-8305-9 (9781461583059)
DOI
10.1007/978-1-4615-8303-5
Schweitzer Classification
Other editions
Additional editions
Harry Harris | Kurt Hirschhorn
Advances in Human Genetics: 11
Book
06/1981
Kluwer Academic / Plenum Publishers
€109.28
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Content
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.