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Nonsense Mutations in the Rhodopsin Gene that Give Rise to Mild Phenotypes Trigger mRNA Degradation in Human Cells by Nonsense-Mediated Decay

Eight different nonsense mutations in the human rhodopsin gene cause retinitis pigmentosa (RP), an inherited degenerative disease of the retina that can lead to complete blindness. Although all these nonsense mutations lead to premature termination codons (PTCs) in rhodopsin mRNA, some display domin...

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Detalhes bibliográficos
Publicado no:Exp Eye Res
Main Authors: Roman-Sanchez, Ramon, Wensel, Theodore G., Wilson, John H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4808503/
https://ncbi.nlm.nih.gov/pubmed/26416182
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2015.09.013
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