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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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Vydáno v:J Am Soc Nephrol
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Nephrology 2018
Témata:
On-line přístup: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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