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WRN mutations in Werner syndrome

โœ Scribed by Michael J. Moser; Junko Oshima; Raymond J. Monnat Jr.


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
272 KB
Volume
13
Category
Article
ISSN
1059-7794

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WRN mutations in Werner Syndrome
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The spectrum of WRN mutations in Werner
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The International Registry of Werner syndrome (www.wernersyndrome.org) has been providing molecular diagnosis of the Werner syndrome (WS) for the past decade. The present communication summarizes, from among 99 WS subjects, the spectrum of 50 distinct mutations discovered by our group and by others

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Werner syndrome (WS) is a pleiotropic disease of premature aging involving short stature, tight, atrophied, and/or ulcerated skin; a characteristic 'birdlike' facies and high, squeaky or hoarse voice; premature greying and thinning of the hair; and early onset cataracts. Additional common symptoms i

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## Abstract Werner syndrome is an autosomal inherited disease that is characterized by premature aging. The gene mutated in Werner syndrome (WS), __WRN__, encodes both a 3โ€ฒโ€‰โ†’โ€‰5โ€ฒ DNA helicase and a 3โ€ฒโ€‰โ†’โ€‰5โ€ฒ DNA exonuclease. Among the WS phenotypes is an exceptionally high incidence of sarcomas. We as

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Rothmund-Thomson syndrome (RTS), an autosomal recessive disorder, comprises poikiloderma, growth deficiency, some aspects of premature aging, and a predisposition to malignancy, especially osteogenic sarcomas. Two kindreds with RTS were recently shown to segregate for mutations in the human RECQL4 h