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Article

A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion

2001-08-31

Abstract excerpt

Abstract Huntington's disease (HD) is an autosomal dominant disorder characterized by abnormalities of movement, cognition, and emotion and selective atrophy of the striatum and cerebral cortex. While the etiology of HD is known to be a CAG trinucleotide repeat expansion, the pathways by which this mutation causes HD pathology remain unclear. We now report a large pedigree with an autosomal dominant disorder that...

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Identifiers and source

Literature Corpus work
8e1c56d2-54d3-531f-bcbf-7846a8ec516e
DOI
10.1002/ana.1124
Open publication

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A disorder similar to Huntington's disease is associated with a novel CAG repeat expansionDOI 10.1002/ana.1124
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