Advances in Human Genetics 12

Bibliographic Details
Main Authors: Harris, Harry, Hirschhorn, Kurt (Author)
Format: eBook
Language:English
Published: New York, NY Springer US 1982, 1982
Edition:1st ed. 1982
Series:Advances in Human Genetics
Subjects:
Online Access:
Collection: Springer Book Archives -2004 - Collection details see MPG.ReNa
Table of Contents:
  • 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