Molecular pathology and genetics of Alport syndrome
著者
書誌事項
Molecular pathology and genetics of Alport syndrome
（Contributions to nephrology, v.117）
Karger, c1996
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注記
Includes bibliographical references and index
内容説明・目次
内容説明
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.
目次
- Alport syndrome - clinical phenotypes, incidence and pathology, M.C. Gregory et al
- application of linked markers for genetic diagnosis of Alport syndrome, D.F. Barker et al
- molecular properties of the glomerular basement membrane, T. Pihlajaniemi
- the alpha chains of type IV collagen, J. Zhou and S.T. Reeders
- the type IV collagen gene family, P. Heikkila and R. Soininen
- distribution of type IV collagen alpha 1, alpha 2 and alpha 5 chains in human tissues, H. Sariola et al
- immunohistologic findings in Alport syndrome, C.E. Kashtan et al
- mutations in type IV collagen genes and Alport phenotypes, K. Tryggvason
- mutations in Alport syndrome associated with diffuse oesophageal leiomyomatosis, C. Antignac and L. Heidet
- new approaches to the DNA diagnosis of Alport syndrome, A. Renieri and M. De Marchi.
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