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A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

'Nonstop' mutations are single base-pair substitutions that occur within translational termination (stop) codons and which can lead to the continued and inappropriate translation of the mRNA into the 3'-untranslated region. We have performed a meta-analysis of the 119 nonstop mutation...

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Detalles Bibliográficos
Autores principales: Hamby, Stephen E, Thomas, Nick ST, Cooper, David N, Chuzhanova, Nadia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525242/
https://www.ncbi.nlm.nih.gov/pubmed/21712188
http://dx.doi.org/10.1186/1479-7364-5-4-241