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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...
Autores principales: | Zhou, Yong, Jiang, Qiujie, Takahagi, Shunshuge, Shao, Changxia, Uitto, Jouni |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3800235/ https://www.ncbi.nlm.nih.gov/pubmed/23702584 http://dx.doi.org/10.1038/jid.2013.234 |
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