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This publication provides a unique review of the immense progress that has been made in Alport syndrome research during the last few years. Written by scientists at the forefront of recent developments, the chapters outline current understanding of the epidemiology, genetics, pathology and clinical features of Alport syndrome. The book also provides extensive description of the stuctural properties of the glomerular basement membrane, and type IV collagen and its genes that are mutated in the disease. Thorough coverage is given to the nature of the mutations and the phenotypes they cause as well as to present methods for linkage analysis and DNA diagnosis. "Molecular Pathology and Genetics of Alport Syndrome" is not only an important reference for nephrologists and kidney transplantation surgeons but should also interest specialists in internal medicine, paediatrics, urology and genetics. ... Read more

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Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come by—until now. The “Gale Encyclopedia of Genetic Disorders” addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the “Gale Encyclopedia of Genetic Disorders” for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.