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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Detalles Bibliográficos
Autores principales: Le Saux, Olivier, Fülöp, Krisztina, Yamaguchi, Yukiko, Iliás, Attila, Szabó, Zalán, Brampton, Christopher N., Pomozi, Viola, Huszár, Krisztina, Arányi, Tamás, Váradi, András
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173462/
https://www.ncbi.nlm.nih.gov/pubmed/21935449
http://dx.doi.org/10.1371/journal.pone.0024738

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173462/
https://www.ncbi.nlm.nih.gov/pubmed/21935449
http://dx.doi.org/10.1371/journal.pone.0024738

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