Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype

Loss-of-function mutations in the WRN helicase gene cause Werner syndrome- a progeroid syndrome with an elevated risk of cancer and other age-associated diseases. Large numbers of single nucleotide polymorphisms have been identified in WRN. We report here the organismal, cellular, and molecular phen...

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Veröffentlicht in:Sci Rep
Hauptverfasser: Kamath-Loeb, Ashwini S., Zavala-van Rankin, Diego G., Flores-Morales, Jeny, Emond, Mary J., Sidorova, Julia M., Carnevale, Alessandra, Cárdenas-Cortés, Maria del Carmen, Norwood, Thomas H., Monnat, Raymond J., Loeb, Lawrence A., Mercado-Celis, Gabriela E.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2017
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5343477/
https://ncbi.nlm.nih.gov/pubmed/28276523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep44081
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