Article
The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis.
Human genetics - 1 Nov 2008
Muftuoglu Meltem, Oshima Junko, von Kobbe Cayetano, Cheng Wen-Hsing, Leistritz Dru F, Bohr Vilhelm A
Abstract excerpt
Werner syndrome (WS) is an adult onset segmental progeroid syndrome caused by mutations in the WRN gene. The WRN gene encodes a 180 kDa nuclear protein that possesses helicase and exonuclease activities. The absence of WRN protein leads to abnormalities in various DNA metabolic pathways such as DNA repair, replication and telomere maintenance. Individuals with WS generally develop normally until the third decade...
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