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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Main Authors: Pomozi, Viola, Brampton, Christopher, Fülöp, Krisztina, Chen, Li-Hsieh, Apana, Ailea, Li, Qiaoli, Uitto, Jouni, Le Saux, Olivier, Váradi, András
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3962510/
https://ncbi.nlm.nih.gov/pubmed/24352041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2013.482
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