Article
A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis.
Neurology - 10 Nov 1999
Ohshima K, Sakamoto N, Labuda M, Poirier J, Moseley M L, Montermini L, Ranum L P, Wells R D, Pandolfo M
Abstract excerpt
An individual with late-onset ataxia was found to be heterozygous for an unusual (GAAGGA)65 sequence and a normal GAA repeat in the frataxin gene. No frataxin point mutation was present, excluding a form of Friedreich ataxia. (GAAGGA)65 did not have the inhibitory effect on gene expression in transfected cells shown by pathogenic GAA repeats of similar length. GAA repeats, but not (GAAGGA)65, adopt a triple...
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