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Homozygosity Mapping of the Werner Syndrome Locus (WRN)

✍ Scribed by Jun Nakura; Ellen M. Wijsman; Tetsuro Miki; Kouzin Kamino; Chang-En Yu; Junko Oshima; Ken-ichiro Fukuchi; James L. Weber; Charles Piussan; Maria I. Melaragno; Charles J. Epstein; S. Scappaticci; Marco Fraccaro; Toshiharu Matsumura; Shunichi Murano; Sho Yoshida; Yoshisada Fujiwara; Toshiaki Saida; Toshio Ogihara; George M. Martin; Gerard D. Schellenberg


Book ID
115612397
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
553 KB
Volume
23
Category
Article
ISSN
0888-7543

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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

Werner syndrome and mutations of the WRN
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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