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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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Detalles Bibliográficos
Autores principales:	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:	Texto
Lenguaje:	English
Publicado:	Oxford University Press 2008
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588641/ https://www.ncbi.nlm.nih.gov/pubmed/18801880 http://dx.doi.org/10.1093/hmg/ddn283

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