Analysis of Pseudoxanthoma Elasticum-Causing Missense Mutants of ABCC6 in vivo; Pharmacological Correction of the Mislocalized Proteins

Mutations in the ABCC6 gene cause soft tissue calcification in pseudoxanthoma elasticum (PXE) and in some patients generalized arterial calcification of infancy (GACI). PXE is characterized by late-onset and progressive mineralization of elastic fibers in dermal, ocular and cardiovascular tissues. G...

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Detalles Bibliográficos
Autores principales: Pomozi, Viola, Brampton, Christopher, Fülöp, Krisztina, Chen, Li-Hsieh, Apana, Ailea, Li, Qiaoli, Uitto, Jouni, Le Saux, Olivier, Váradi, András
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962510/
https://www.ncbi.nlm.nih.gov/pubmed/24352041
http://dx.doi.org/10.1038/jid.2013.482

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962510/
https://www.ncbi.nlm.nih.gov/pubmed/24352041
http://dx.doi.org/10.1038/jid.2013.482

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