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Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease

Inherited metabolic diseases (IMDs) belong to the group of rare diseases due to their low individual prevalence. Most of them are inherited in autosomal recessive fashion and represent good candidates for novel therapeutical strategies aimed at recovering partial enzyme function as they lack an effe...

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Hlavní autoři: Pérez, B., Rodríguez-Pombo, P., Ugarte, M., Desviat, L.R.
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3531923/
https://ncbi.nlm.nih.gov/pubmed/23293581
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000343086
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