GeneticsThe American Journal of Human GeneticsPeer-reviewed
Development of a novel oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.
Elisabetta Morini, Anil K. Chekuri, Emily M. Logan…·Susan Slaugenhaupt
This paper develops an oral treatment, PTC258, that restores ELP1 splicing and improves symptoms in a mouse model of familial dysautonomia.
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