ABCC6 Deficiency Promotes Development of Randall Plaque

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a genetic disease caused by mutations in the ABCC6 gene that result in low pyrophosphate levels and subsequent progressive soft tissue calcifications. PXE mainly affects the skin, retina, and arteries. However, many patients with PXE experience kidney st...

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Detalhes bibliográficos
Publicado no:J Am Soc Nephrol
Main Authors: Letavernier, Emmanuel, Kauffenstein, Gilles, Huguet, Léa, Navasiolava, Nastassia, Bouderlique, Elise, Tang, Ellie, Delaitre, Léa, Bazin, Dominique, de Frutos, Marta, Gay, Clément, Perez, Joëlle, Verpont, Marie-Christine, Haymann, Jean-Philippe, Pomozi, Viola, Zoll, Janna, Le Saux, Olivier, Daudon, Michel, Leftheriotis, Georges, Martin, Ludovic
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2018
Assuntos:
Basic Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6115671/
https://ncbi.nlm.nih.gov/pubmed/29991491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2017101148
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