Article
Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins.
The Journal of investigative dermatology - 1 Apr 2014
Pomozi Viola, Brampton Christopher, Fülöp Krisztina, Chen Li-Hsieh, Apana Ailea, Li Qiaoli, Uitto Jouni, Le Saux Olivier, Váradi András
Abstract excerpt
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. GACI patients present a more severe, often prenatal arterial calcification. We have tested 10 frequent...
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