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"WRN mutations in Werner syndrome." |
Moser MJ, Oshima J, Monnat RJ Jr |
Published Jan. 1, 1999 in Hum Mutat volume 13 .
Pubmed ID: 10220139
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. |
This publication refers to following REPAIRtoire entries:
| Proteins |
Last modification of this entry: Oct. 6, 2010
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