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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Bibliografiset tiedot
Julkaisussa:J Am Soc Nephrol
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society of Nephrology 2018
Aiheet:
Basic Research
Linkit: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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