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

导出 LinkOut

翻译打印收藏纠错

作者： Uriel,López-Sánchez ^[1] ; Gaël,Nicolas ^[2] ; Anne-Claire,Richard ^[2] ; David,Maltête ^[3] ; Mahmoud,Charif ^[4] ; Xavier,Ayrignac ^[5] ; Cyril,Goizet ^[5] ; Jawida,Touhami ^[6] ; Gilles,Labesse ^[1] ; Jean-Luc,Battini ^[7] ; Marc,Sitbon ^[8]

作者单位： Institut de Génétique Moléculaire de Montpellier, University of Montpellier, CNRS, Montpellier, France. ^[1] Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, Rouen, France. ^[2] Department of Neurology, Rouen University Hospital and University of Rouen, Rouen, France. ^[3] INSERM U1239, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Mont-Saint-Aignan, France. ^[4] Department of Neurology, Montpellier University Hospital, Montpellier, France. ^[5] INSERM U1211, Univ Bordeaux, Laboratoire Maladies Rares, Génétique et Métabolisme; CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France. ^[6] Centre de Biochimie Structurale, University of Montpellier, CNRS, Montpellier, France. ^[7] Institut de Génétique Moléculaire de Montpellier, University of Montpellier, CNRS, Montpellier, France. jean-luc.battini@irim.cnrs.fr. ^[8] Institut de Recherche en lnfectiologie de Montpellier, University of Montpellier, CNRS, Montpellier, France. jean-luc.battini@irim.cnrs.fr. ^[9] Institut de Génétique Moléculaire de Montpellier, University of Montpellier, CNRS, Montpellier, France. marc.sitbon@igmm.cnrs.fr. ^[10]