Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects
Peter M. Royce, Beat Steinmann
John Wiley & Sons, Apr 14, 2003 - Medical - 1201 pages
The Second Edition of Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects is the definitive reference text in its field, with over 40% more pages on the nature, diagnosis, and treatment of disease than its predecessor. Collecting new research on disorders detailed in the first edition as well as on those previously excluded, editors Peter Royce and Beat Steinmann provide the most up-to-date clinical and scientific information for medical specialists treating affected individuals. Features of this revised and updated volume include detailed reviews of the clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a thorough description of the morphology of connective tissues; a completely updated and revised section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism.
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abnormal Acad Sci USA activity adhesion aggrecan alternative splicing amino acid articular associated basement membrane binding Biochem Biol Chem bone resorption cartilage cathepsin Cell Biol chains characterized chondrocytes Clin clinical codon collagen fibrils collagen gene collagen types collagenase components connective tissue contains cornea cross-links cysteine decorin degradation Dermatol dermis differentiation disease disorders Ehlers-Danlos syndrome elastic fibers elastin encoding endothelial cells enzyme exon expression extracellular matrix fibrillar collagens fibroblasts fibronectin filament function Genet glycoprotein growth factor growth plate human inhibit inhibitor integrin interactions keratin laminin lysyl matrix metalloproteinase matrix protein mice microfibrils mineralization MMPs molecular mouse mRNA mutations N-terminal Natl Acad Sci noncollagenous normal OI type osteoclasts osteogenesis imperfecta patients peptide phenotype Proc Natl Acad procollagen propeptide proteinases proteoglycan receptor region regulation residues result role sequence skin structure studies sulfate synthesis triple helix tropoelastin tumor type I collagen type of EDS vascular vitro