Advances in Human Genetics

12

Häftad, Engelska, 2012

Av Harry Harris, Kurt Hirschhorn

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Produktinformation

Utgivningsdatum2012-01-11
Mått152 x 229 x 27 mm
Vikt706 g
FormatHäftad
SpråkEngelska
SerieAdvances in Human Genetics
Antal sidor488
FörlagSpringer-Verlag New York Inc.
ISBN9781461583172

Tillhör följande kategorier

Medicinsk genetik inom Medicin

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.

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