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See Latest ArticlesPseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)
Human Mutation, 11/02/09
Perez B et al. – The results presented here highlight the necessity of scanning the described intronic region for mutations in MUT–affected patients, followed by functional analyses to demonstrate the pathogenicity of the identified changes, and extend previous work of the applicability of the antisense approach in methylmalonic aciduria (MMAuria) for a novel intronic mutation.
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