Article
Immunological diagnosis of Werner syndrome by down-regulated and truncated gene products.
Human genetics - 1 Oct 1999
Goto M, Yamabe Y, Shiratori M, Okada M, Kawabe T, Matsumoto T, Sugimoto M, Furuichi Y
Abstract excerpt
Although immunological methods are widely used to diagnose various infectious diseases, they have rarely been employed to detect genetic diseases. In this study, we have established an immunoblot analysis system for the diagnosis of Werner syndrome (WS), a recessive genetic disorder causing premature aging and an enhanced risk of rare cancers. The method uses an immunoblot technique with specific monoclonal...
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