Benutzer: Gast  Login
Dokumenttyp:
journal article 
Autor(en):
Aridon, Paolo; De Fusco, Maurizio; Winkelmann, Juliane W; Zucconi, Marco; Arnao, Valentina; Ferini-Strambi, Luigi; Casari, Giorgio 
Titel:
A TRAPPC6B splicing variant associates to restless legs syndrome. 
Abstract:
RLS is a common movement disorders with a strong genetic component in its pathophysiology, but, up to now, no causative mutation has been reported.We re-evaluated the previously described RLS2 family by exome sequencing.We identified fifteen variations in the 14q critical region. The c.485G> A transition of the TRAPPC6B gene segregates with the RLS2 haplotype, is absent in 200 local controls and is extremely rare in 12988 exomes from the Exome Variant Server (EVS). This variant alters a splicing...    »
 
Zeitschriftentitel:
Parkinsonism Relat Disord 
Jahr:
2016 
Band / Volume:
31 
Seitenangaben Beitrag:
135-138 
Sprache:
eng 
Print-ISSN:
1353-8020 
TUM Einrichtung:
Lehrstuhl für Neurogenetik