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Article

Age‐dependent and tissue‐specific CAG repeat instability occurs in mouse knock‐in for a mutant Huntington's disease gene

31 Jul 2001

Abstract excerpt

Huntington's disease (HD) is a neurodegenerative disorder characterized by the expansion of CAG repeats in exon 1 of the HD gene. To clarify the instability of expanded CAG repeats in HD patients, an HD model mouse has been generated by gene replacement with human exon 1 of the HD gene with expansion to 77 CAG repeats. Chimeric proteins composed of human mutated exon 1 and mouse huntingtin are expressed...

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PMID: 11494364
DOI: 10.1002/jnr.1153

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