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Detection of pathogenic mutations and the mechanism of a rare chromosomal rearrangement in a Chinese family with Becker muscular dystrophy

✍ Scribed by Feifei Li; Yan Li; Kai Cui; Chaohua Li; Wei Chen; Jie Gao; Yufang Zhu; Changqing Zeng; Sheng Li


Book ID
118427814
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
902 KB
Volume
414
Category
Article
ISSN
0009-8981

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The Werner's syndrome ( WS) is a rare recessive disease characterized by an early onset of geriatric disorders. The Werner's syndrome gene ( WRN), recently cloned, encodes for an helicase and therefore plays a role in DNA metabolism and DNA repair. Here, we report the study of a French family with t