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Mutation detection in Machado-Joseph disease using repeat expansion detection.

BACKGROUND: Several neurological disorders have recently been explained through the discovery of expanded DNA repeat sequences. Among these is Machado-Joseph disease, one of the most common spinocerebellar ataxias (MJD/SCA3), caused by a CAG repeat expansion on chromosome 14. A useful way of detecti...

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Autors principals: Lindblad, K., Lunkes, A., Maciel, P., Stevanin, G., Zander, C., Klockgether, T., Ratzlaff, T., Brice, A., Rouleau, G. A., Hudson, T., Auburger, G., Schalling, M.
Format: Artigo
Idioma:Inglês
Publicat: The Feinstein Institute for Medical Research 1996
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2230032/
https://ncbi.nlm.nih.gov/pubmed/8900536
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