Article
Diagnosis of Werner syndrome by immunoblot analysis.
Clinical and experimental dermatology - 1 Mar 2002
Shimizu T, Tateishi Y, Furuichi Y, Sugimoto M, Kawabe T, Matsumoto T, Shimizu H
Abstract excerpt
Werner syndrome (WS) is caused by mutations in the gene encoding RecQ type DNA helicase (WRN). We report a 53-year-old Japanese male with WS who initially presented with skin ulcers on the feet and the left elbow. The patient had a high-pitched voice, hoarseness, a characteristic bird-like facial appearance with a beak-shaped nose, canities and juvenile cataracts. Immunoblot analysis using a monoclonal antibody...
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