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Charcot Marie Tooth (CMT) Subtypes and Genetic Testing Strategies

BACKGROUND: Charcot Marie Tooth disease (CMT) affects one in 2500 people and is caused by mutations in more than 30 genes. Identifying the genetic cause of CMT is often necessary for family planning, natural history studies and for entry into clinical trials. However genetic testing can be both expe...

詳細記述

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書誌詳細
主要な著者: Saporta, Anita S.D., Sottile, Stephanie L., Miller, Lindsey J., Feely, Shawna M.E., Siskind, Carly E, Shy, Michael E.
フォーマット: Artigo
言語:Inglês
出版事項: 2011
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3058597/
https://ncbi.nlm.nih.gov/pubmed/21280073
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.22166
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