Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhou, Yong, Jiang, Qiujie, Takahagi, Shunshuge, Shao, Changxia, Uitto, Jouni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2013
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