Article
CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences - 29 Jun 1999
Frontali M, Novelletto A, Annesi G, Jodice C
Abstract excerpt
Different aspects of expanded polyglutamine tracts and of their pathogenetic role are taken into consideration here. (i) The (CAG)n length of wild-type alleles of the Huntington disease gene was analysed in instability-prone tumour tissue from colon cancer patients to test whether the process leading to the elongation of alleles towards the expansion range involves single-unit stepwise mutations or larger jumps....
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