Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease

Copy number variations (CNVs) are important in relation to diversity and evolution but can sometimes cause disease. The most common genetic cause of the inherited peripheral neuropathy Charcot-Marie-Tooth disease is the PMP22 duplication; otherwise, CNVs have been considered rare. We investigated CN...

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Publicado en:Biomed Res Int
Autores principales: Høyer, Helle, Braathen, Geir J., Eek, Anette K., Nordang, Gry B. N., Skjelbred, Camilla F., Russell, Michael B.
Formato: Artigo
Lenguaje:Inglês
Publicado: Hindawi Publishing Corporation 2015
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4306395/
https://ncbi.nlm.nih.gov/pubmed/25648254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/960404
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