Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification

Primary familial brain calcification (PFBC) is a rare neurological disease characterized by deposits of calcium phosphate in the basal ganglia and other regions of the brain. Pathogenic variants in the XPR1/SLC53A1 gene, which encodes the only known inorganic phosphate exporter, cause an autosomal d...

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Veröffentlicht in:Sci Rep
Hauptverfasser: López-Sánchez, Uriel, Nicolas, Gaël, Richard, Anne-Claire, Maltête, David, Charif, Mahmoud, Ayrignac, Xavier, Goizet, Cyril, Touhami, Jawida, Labesse, Gilles, Battini, Jean-Luc, Sitbon, Marc
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2019
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6494797/
https://ncbi.nlm.nih.gov/pubmed/31043717
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-43255-x
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