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Advances in Human Genetics: Advances in Human Genetics, cartea 12

Autor Harry Harris, Kurt Hirschhorn
en Limba Engleză Paperback – 11 ian 2012
From reviews of previous volumes in the series: 'Extremely valuable...thoroughly recommended.'-Annals of Human Genetics 'The most lucid and stimulating discussions of the topic to be found anywhere.'-American Scientist
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Specificații

ISBN-13: 9781461583172
ISBN-10: 1461583179
Pagini: 492
Ilustrații: XX, 488 p. 89 illus.
Dimensiuni: 152 x 229 x 27 mm
Greutate: 0.71 kg
Ediția:Softcover reprint of the original 1st ed. 1982
Editura: Springer
Colecția Advances in Human Genetics
Seria Advances in Human Genetics

Locul publicării:New York, NY, United States

Public țintă

Research

Cuprins

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.

Recenzii

From reviews of earlier volumes: `. . . extremely valuable . . . thoroughly recommended.
Annals of Human Genetics

`The publisher and authors are to be congratulated on bringing so much biochemical material relating to human disease together so efficiently on an annual basis.'
Journal of Applied Biochemistry