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 R M Oliveira
Renee L Sears
Eliana Marisa Ramos
Elizabeth Spiteri
María-Jesús Sobrido
Ángel 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 Paulson
Jérémie Pariente
Anne-Claire Richard
Naomi S Salins
Sheila A Simpson
Pasquale Striano
Per Svenningsson
François Tison
Vivek K Unni
Olivier Vanakker
Marja W Wessels
Suppachok Wetchaphanphesat
Michele Yang
Francois Boller, George Washington UniversityFollow
Dominique Campion
Didier Hannequin
Marc Sitbon
Daniel H Geschwind
Jean-Luc Battini
Giovanni Coppola

Document Type

Journal Article

Publication Date

6-1-2015

Journal

Nature Genetics

Volume

47

Issue

6

Inclusive Pages

579-81

DOI

10.1038/ng.3289

APA Citation

Legati, A., Giovannini, D., Nicolas, G., López-Sánchez, U., Quintáns, B., Oliveira, J., Sears, R., Ramos, E., Spiteri, E., Sobrido, M., Carracedo, Á., Castro-Fernández, C., Cubizolle, S., Fogel, B., Goizet, C., Jen, J., Kirdlarp, S., Lang, A., Miedzybrodzka, Z., Mitarnun, W., Paucar, M., Paulson, H., Pariente, J., Richard, A., Salins, N., Simpson, S., Striano, P., Svenningsson, P., Tison, F., Unni, V., Vanakker, O., Wessels, M., Wetchaphanphesat, S., Yang, M., Boller, F., Campion, D., Hannequin, D., Sitbon, M., Geschwind, D., Battini, J., & Coppola, G. (2015). Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.. Nature Genetics, 47 (6). http://dx.doi.org/10.1038/ng.3289

Peer Reviewed

1