Expression and In Vivo Rescue of Human ABCC6 Disease-Causing Mutants in Mouse Liver

Loss-of-function mutations in ABCC6 can cause chronic or acute forms of dystrophic mineralization described in disease models such as pseudoxanthoma elasticum (OMIM 26480) in human and dystrophic cardiac calcification in mice. The ABCC6 protein is a large membrane-embedded organic anion transporter...

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Hauptverfasser: Le Saux, Olivier, Fülöp, Krisztina, Yamaguchi, Yukiko, Iliás, Attila, Szabó, Zalán, Brampton, Christopher N., Pomozi, Viola, Huszár, Krisztina, Arányi, Tamás, Váradi, András
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2011
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3173462/
https://ncbi.nlm.nih.gov/pubmed/21935449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0024738
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