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| 008 |
140122 ||| eng |
| 020 |
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|a 9781461583158
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| 100 |
1 |
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|a Harris, Harry
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| 245 |
0 |
0 |
|a Advances in Human Genetics
|h Elektronische Ressource
|b 12
|c by Harry Harris, Kurt Hirschhorn
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| 250 |
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|a 1st ed. 1982
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| 260 |
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|a New York, NY
|b Springer US
|c 1982, 1982
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| 300 |
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|a XX, 488 p. 89 illus
|b online resource
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| 505 |
0 |
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|a 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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| 653 |
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|a Medical Genetics
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| 653 |
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|a Medical genetics
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| 700 |
1 |
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|a Hirschhorn, Kurt
|e [author]
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| 041 |
0 |
7 |
|a eng
|2 ISO 639-2
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| 989 |
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|b SBA
|a Springer Book Archives -2004
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| 490 |
0 |
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|a Advances in Human Genetics
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| 028 |
5 |
0 |
|a 10.1007/978-1-4615-8315-8
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| 856 |
4 |
0 |
|u https://doi.org/10.1007/978-1-4615-8315-8?nosfx=y
|x Verlag
|3 Volltext
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| 082 |
0 |
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|a 616.042
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