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WRN mutations in Werner syndrome
Author(s) -
Moser Michael J.,
Oshima Junko,
Monnat Raymond J.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:4<271::aid-humu2>3.0.co;2-q
Subject(s) - werner syndrome , biology , hum , genetics , helicase , phenotype , pathogenesis , loss function , mutation , function (biology) , progeria , gene , immunology , rna , art , performance art , art history
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. Hum Mutat 13:271–279, 1999. © 1999 Wiley‐Liss, Inc.