Moser M J, Oshima J, Monnat R J
Department of Pathology, University of Washington, Seattle 98195-7705, USA.
Hum Mutat. 1999;13(4):271-9. doi: 10.1002/(SICI)1098-1004(1999)13:4<271::AID-HUMU2>3.0.CO;2-Q.
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.
沃纳综合征（WS）是最近被发现与细胞解旋酶功能缺陷有关的一组人类遗传疾病之一。我们综述了与WS相关的WRN突变谱、WRN蛋白的结构与潜在功能，以及WRN功能丧失与WS临床和细胞表型发病机制之间的潜在机制联系。
