The Spectrum of WRN Mutations in Werner Syndrome Patients

The International Registry of Werner syndrome (www.wernersyndrome.org) has been providing molecular diagnosis of the Werner syndrome (WS) for the past decade. The present communication summarizes, from among 99 WS subjects, the spectrum of 50 distinct mutations discovered by our group and by others...

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主要な著者: Huang, Shurong, Lee, Lin, Hanson, Nancy B., Lenaerts, Catherine, Hoehn, Holger, Poot, Martin, Rubin, Craig D., Chen, Da-Fu, Yang, Chih-Chao, Juch, Heike, Dorn, Thomas, Spiegel, Roland, Oral, Elif Arioglu, Abid, Mohammed, Battisti, Carla, Lucci-Cordisco, Emanuela, Neri, Giovanni, Steed, Erin H., Kidd, Alexa, Isley, William, Showalter, David, Vittone, Janet L., Konstantinow, Alexander, Ring, Johannes, Meyer, Peter, Wenger, Sharon L., von Herbay, Axel, Wollina, Uwe, Schuelke, Markus, Huizenga, Carin R., Leistritz, Dru F., Martin, George M., Mian, I. Saira, Oshima, Junko
フォーマット: Artigo
言語:Inglês
出版事項: 2006
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1868417/
https://ncbi.nlm.nih.gov/pubmed/16673358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20337
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