Advances in Human Genetics: 12: Advances in Human Genetics, cartea 12
Autor Harry Harris, Kurt Hirschhornen Limba Engleză Paperback – 11 ian 2012
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Specificații
ISBN-13: 9781461583172
ISBN-10: 1461583179
Pagini: 492
Ilustrații: XX, 488 p. 89 illus.
Dimensiuni: 152 x 229 x 26 mm
Greutate: 0.65 kg
Ediția:Softcover reprint of the original 1st ed. 1982
Editura: Springer Us
Colecția Springer
Seria Advances in Human Genetics
Locul publicării:New York, NY, United States
ISBN-10: 1461583179
Pagini: 492
Ilustrații: XX, 488 p. 89 illus.
Dimensiuni: 152 x 229 x 26 mm
Greutate: 0.65 kg
Ediția:Softcover reprint of the original 1st ed. 1982
Editura: Springer Us
Colecția Springer
Seria Advances in Human Genetics
Locul publicării:New York, NY, United States
Public țintă
ResearchCuprins
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
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