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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Le Saux, Olivier, Fülöp, Krisztina, Yamaguchi, Yukiko, Iliás, Attila, Szabó, Zalán, Brampton, Christopher N., Pomozi, Viola, Huszár, Krisztina, Arányi, Tamás, Váradi, András
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2011
Gaiak:
Research Article
Sarrera elektronikoa: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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