Advances in Human Genetics 12 [Paperback]

1 Genetic Disorders of Collagen Metabolism.- Collagen and Procollagen.- Collagen Chains.- Collagen Types.- Distribution.- Classification.- Collagen Genes.- Biosynthesis of Collagen.- Extracellular Processing.- Molecular Packing.- Cross-linking.- Degradation.- Disorders of Collagen Metabolism.- The Ehlers-Danlos Syndrome.- The Marfan Syndrome.- Cutis Laxa.- The Osteochondrodysplasias.- Concluding Remarks.- References.- 2 Advances in Genetics in Dermatology.- Disorders of Keratinization.- Epidermal Structure, Replication, and Keratinization.- Disorders of the Epidermis.- Disorders of the Epidermal-Dermal Junction.- Epidermolysis Bullosa.- Neurocutaneous Disorders.- Neurofibromatosis.- Tuberous Sclerosis.- Metabolic Disorders.- Acrodermatitis Enteropathica.- Refsum Syndrome.- Richner-Hanhart Syndrome.- Tumors in Genetic Diseases.- Basal Cell Nevus Syndrome.- Xeroderma Pigmentosum.- Epidermodysplasia Verruciformis.- Disorders of Hair.- Structure, Growth, and Keratinization of Hair.- Diseases 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.- Subunit Isolation.- Amino Acid Composition.- Carbohydrate Composition.- Molecular Weight.- Isoelectric Point.- Primary Structure.- Chain Arrangements.- Polymer Characterization.- Homology with the Chymotrypsinogen Family of Serine Proteases.- Reaction of Haptoglobin with Hemoglobin.- Characterization and Stoichiometry.- Binding Site on Hemoglobin.- Binding Site on Haptoglobin.- Species Specificity of Hemoglobin Binding.- Haptoglobin from Species Other Than Human.- Haptoglobin Variants.- Hp 2-1 Modified.- Hp 2-1 (Trans), Ha, and Ab.- Hp Carlsberg.- Hp P, H, L, B, and D.- Hp Johnson.- Hp?, the Silent Allele.- ?-Chain Variants of Human Haptoglobin.- Immunologic Aspects of Haptoglobin.- Biosynthesis and Catabolism.- Haptoglobl3^