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Titel:

A TRAPPC6B splicing variant associates to restless legs syndrome.

Dokumenttyp:
journal article
Autor(en):
Aridon, Paolo; De Fusco, Maurizio; Winkelmann, Juliane W; Zucconi, Marco; Arnao, Valentina; Ferini-Strambi, Luigi; Casari, Giorgio
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
Volltext / DOI:
doi:10.1016/j.parkreldis.2016.08.016
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/27569842
Print-ISSN:
1353-8020
TUM Einrichtung:
Neurologische Klinik und Poliklinik
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