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A Huntington’s disease (HD) phenocopy leads to the identification of the HD toxin as polyalanine. The relationship between repeat length and age of onset can be reframed as a rate equation and the toxic polyalanine length is found to be about 30.6.

2019-08-08

Abstract excerpt

Huntington’s disease (HD) is one of the most well defined “repeat diseases”, associated with a short repeated genetic sequence, CAG.First, taking into account that a phenocopy of HD has a different repeat that is associated with a different gene, I suggest that the gene is not important for HD, only the repeat sequence is important, in agreement with Lee et al (2019) who reached the same conclusi...

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Identifiers and source

Literature Corpus work
9ff38c3e-6b56-58fb-a636-b1b577b168d6
DOI
10.20944/preprints201905.0383.v2
Open publication

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