Article
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.
Neurology - 8 Jan 2013
Nicolas Gaël, Pottier Cyril, Maltête David, Coutant Sophie, Rovelet-Lecrux Anne, Legallic Solenn, Rousseau Stéphane, Vaschalde Yvan, Guyant-Maréchal Lucie, Augustin Jérôme, Martinaud Olivier, Defebvre Luc, Krystkowiak Pierre, Pariente Jérémie, Clanet Michel, Labauge Pierre, Ayrignac Xavier, Lefaucheur Romain, Le Ber Isabelle, Frébourg Thierry, Hannequin Didier, Campion Dominique
Abstract excerpt
OBJECTIVES: To identify a new idiopathic basal ganglia calcification (IBGC)-causing gene. METHODS: In a 3-generation family with no SLC20A2 mutation, we performed whole exome sequencing in 2 affected first cousins, once removed. Nonsynonymous coding variants, splice acceptor and donor site variants, and frameshift coding indels (NS/SS/I) were filtered against dbSNP131, the HapMap Project, 1000 Genomes Project,...
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