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The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis
Werner syndrome (WS) is an adult onset segmental progeroid syndrome caused by mutations in the WRN gene. The WRN gene encodes a 180 kDa nuclear protein that possesses helicase and exonuclease activities. The absence of WRN protein leads to abnormalities in various DNA metabolic pathways such as DNA...
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| 出版年: | Hum Genet |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2008
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4586253/ https://ncbi.nlm.nih.gov/pubmed/18810497 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-008-0562-0 |
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