Article
Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group.
American journal of human genetics - 1 Feb 1997
Yu C E, Oshima J, Wijsman E M, Nakura J, Miki T, Piussan C, Matthews S, Fu Y H, Mulligan J, Martin G M, Schellenberg G D
Abstract excerpt
Werner syndrome (WS) is an autosomal recessive disease with a complex phenotype that is suggestive of accelerated aging. WS is caused by mutations in a gene, WRN, that encodes a predicted 1,432-amino-acid protein with homology to DNA and RNA helicases. Previous work identified four WS mutations in the 3' end of the gene, which resulted in predicted truncated protein products of 1,060-1,247 amino acids but did not...
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