Related Experiment Videos
WRN mutations in Werner syndrome
M J Moser1, J Oshima, R J Monnat
1Department of Pathology, University of Washington, Seattle 98195-7705, USA.
Human Mutation
|April 29, 1999
Abstract:
Werner syndrome (WS) is one of a group of human genetic diseases that have recently been linked to deficits in cellular helicase function. We review the spectrum of WS-associated WRN mutations, the organization and potential functions of the WRN protein, and potential mechanistic links between the loss of WRN function and pathogenesis of the WS clinical and cellular phenotypes.