Advances in Human Genetics
12
Published on 11. January 2012
Book
Paperback/Softback
XX, 488 pages
978-1-4615-8317-2 (ISBN)
Description
1 Genetic Disorders of Collagen Metabolism.- Biosynthesis of Collagen.- Extracellular Processing.- Disorders of Collagen Metabolism.- Concluding Remarks.- References.- 2 Advances in Genetics in Dermatology.- Disorders of Keratinization.- Disorders of the Epidermal-Dermal Junction.- Neurocutaneous Disorders.- Metabolic Disorders.- Tumors in Genetic Diseases.- Disorders of Hair.- References.- 3 Haptoglobin: The Evolutionary Product of Duplication, Unequal Crossing Over, and Point Mutation.- Historical.- Detection and Quantitation.- Major Phenotypes.- Occurrence in Physiological Fluids.- Characterization of Glycoprotein Structure.- Homology with the Chymotrypsinogen Family of Serine Proteases.- Reaction of Haptoglobin with Hemoglobin.- Haptoglobin from Species Other Than Human.- Haptoglobin Variants.- Immunologic Aspects of Haptoglobin.- Biosynthesis and Catabolism.- Haptoglobin in Disease.- Gene Characterization.- References.- 4 Models of Human Genetic Disease in Domestic Animals.- Congenital Heart Disease.- Lysosomal Storage Diseases.- Genetic Disorders of the Immune Systems.- Concluding Remarks.- References.- 5 Mapping the Human Genome, Cloned Genes, DNA Polymorphisms, and Inherited Disease.- Constructing the Molecular Map.- Constructing the Genetic Map.- Dissection and Mapping of Human Disease.- The Human Gene Maps.- Comparative Genetics of the Human Genome.- Merging the Genetic and Molecular Maps.- Conclusions.- Appendix A. Chromosome Assignment of Human Gene Markers.- Appendix B. Alphabetical Listing of Human Genes Assigned to Chromosomes.- Appendix C. Linkage Groups Not Assigned to Chromosomes.- References.- Addendum.
More details
Series
Edition
Softcover reprint of the original 1st ed. 1982
Language
English
Place of publication
New York
United States
Target group
Professional and scholarly
Research
Illustrations
89 s/w Abbildungen
XX, 488 p. 89 illus.
Dimensions
Height: 229 mm
Width: 152 mm
Thickness: 27 mm
Weight
706 gr
ISBN-13
978-1-4615-8317-2 (9781461583172)
DOI
10.1007/978-1-4615-8315-8
Schweitzer Classification
Other editions
Additional editions
Harry Harris | Kurt Hirschhorn
Advances in Human Genetics: 12
Book
07/1982
Kluwer Academic / Plenum Publishers
€109.13
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Content
1 Genetic Disorders of Collagen Metabolism.- Biosynthesis of Collagen.- Extracellular Processing.- Disorders of Collagen Metabolism.- Concluding Remarks.- References.- 2 Advances in Genetics in Dermatology.- Disorders of Keratinization.- Disorders of the Epidermal-Dermal Junction.- Neurocutaneous Disorders.- Metabolic Disorders.- Tumors in Genetic Diseases.- Disorders of Hair.- References.- 3 Haptoglobin: The Evolutionary Product of Duplication, Unequal Crossing Over, and Point Mutation.- Historical.- Detection and Quantitation.- Major Phenotypes.- Occurrence in Physiological Fluids.- Characterization of Glycoprotein Structure.- Homology with the Chymotrypsinogen Family of Serine Proteases.- Reaction of Haptoglobin with Hemoglobin.- Haptoglobin from Species Other Than Human.- Haptoglobin Variants.- Immunologic Aspects of Haptoglobin.- Biosynthesis and Catabolism.- Haptoglobin in Disease.- Gene Characterization.- References.- 4 Models of Human Genetic Disease in Domestic Animals.- Congenital Heart Disease.- Lysosomal Storage Diseases.- Genetic Disorders of the Immune Systems.- Concluding Remarks.- References.- 5 Mapping the Human Genome, Cloned Genes, DNA Polymorphisms, and Inherited Disease.- Constructing the Molecular Map.- Constructing the Genetic Map.- Dissection and Mapping of Human Disease.- The Human Gene Maps.- Comparative Genetics of the Human Genome.- Merging the Genetic and Molecular Maps.- Conclusions.- Appendix A. Chromosome Assignment of Human Gene Markers.- Appendix B. Alphabetical Listing of Human Genes Assigned to Chromosomes.- Appendix C. Linkage Groups Not Assigned to Chromosomes.- References.- Addendum.