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HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability

✍ Scribed by Isrie, Mala; Kalscheuer, Vera M.; Holvoet, Maureen; Fieremans, Nathalie; Van Esch, Hilde; Devriendt, Koenraad


Book ID
120432599
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
754 KB
Volume
56
Category
Article
ISSN
1769-7212

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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