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
A novel mutation of the WRN gene in a Chinese patient with Werner syndrome
β Scribed by N. Zhao; F. Hao; T. Qu; Y.-G. Zuo; B-X. Wang
- Book ID
- 108694573
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 393 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0307-6938
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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
## Abstract In a Chinese myoclonusβdystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the Ξ΅βsarcoglycan (__SGCE__) gene, leading to a frameshift wi