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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...
שמור ב:
| הוצא לאור ב: | Sci Rep |
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| Main Authors: | , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Nature Publishing Group
2017
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| נושאים: | |
| גישה מקוונת: | 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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