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Genetic linkage of Werner's syndrome to five markers on chromosome 8

Abstract

WERNER'S syndrome (WS) is a rare autosomal recessive disease in which the affected individuals display symptoms of premature ageing1–3. The substantial phenotypic overlap between WS and normal ageing indicates that these two conditions may have pathogenetic mechanisms in common3–5. The WS mutation has pleiotropic effects, and patients and their cells show many differences compared with normals5. Despite extensive study of the clinical and biochemical features of this disorder, the primary genetic defect remains unknown. We have undertaken a genetic linkage study in an effort to identify the locus of the primary defect6. Here we report close genetic linkage of the WS mutation to a group of markers on chromosome 8.

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Goto, M., Rubenstein, M., Weber, J. et al. Genetic linkage of Werner's syndrome to five markers on chromosome 8. Nature 355, 735–738 (1992). https://doi.org/10.1038/355735a0

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