Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Authors: Andrea Legati, Donatella Giovannini, Gaël Nicolas, Uriel López-Sánchez, Beatriz Quintáns, João Ricardo Mendes de Oliveira, Renee Sears, Eliana Marisa Ramos, Elizabeth Spiteri, María-Jesús Sobrido, Ãngel Carracedo, Cristina Castro-Fernández, Stéphanie Cubizolle, Brent L. Fogel, Cyril Goizet, Joanna C. Jen, Suppachok Kirdlarp, Anthony E. Lang, Zosia Miedzybrodzka, Witoon Mitarnun, Martin Paucar, Henry L. Paulson, Jérémie Pariente, Anne-Claire Richard, Naomi Salins, Sheila A Simpson, Pasquale Striano, Per Svenningsson, François Tison, Vivek K. Unni, Olivier Vanakker, Marja W. Wessels, Suppachok Wetchaphanphesat, Michele Yang, François Boller, Dominique Campion, Didier Hannequin, Marc Sitbon, Daniel H. Geschwind, Jean‐Luc Battini, Giovanni Coppola - Nature Genetics 2015 cited by 316