Premature Termination Codon Read-Through in the ABCC6 Gene: Potential Treatment for Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder manifesting with ectopic connective tissue mineralization, caused by mutations in the ABCC6 gene, ~35% of all mutations being premature termination mutations. In this study, we investigated the therapeutic potential of the nonsense co...

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Autores principales: Zhou, Yong, Jiang, Qiujie, Takahagi, Shunshuge, Shao, Changxia, Uitto, Jouni
Formato: Artigo
Lenguaje:Inglês
Publicado: 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3800235/
https://ncbi.nlm.nih.gov/pubmed/23702584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2013.234
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