A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20

Spinocerebellar ataxia type 20 (SCA20) has been linked to chromosome 11q12, but the underlying genetic defect has yet to be identified. We applied single-nucleotide polymorphism genotyping to detect structural alterations in the genomic DNA of patients with SCA20. We found a 260 kb duplication withi...

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Main Authors: Knight, Melanie A., Hernandez, Dena, Diede, Scott J., Dauwerse, Hans G., Rafferty, Ian, van de Leemput, Joyce, Forrest, Susan M., Gardner, R.J.McKinlay, Storey, Elsdon, van Ommen, Gert-Jan B., Tapscott, Stephen J., Fischbeck, Kenneth H., Singleton, Andrew B.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2008
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2588641/
https://ncbi.nlm.nih.gov/pubmed/18801880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn283
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