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Title:

A TRAPPC6B splicing variant associates to restless legs syndrome.

Document type:
journal article
Author(s):
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...     »
Journal title abbreviation:
Parkinsonism Relat Disord
Year:
2016
Journal volume:
31
Pages contribution:
135-138
Language:
eng
Fulltext / DOI:
doi:10.1016/j.parkreldis.2016.08.016
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/27569842
Print-ISSN:
1353-8020
TUM Institution:
Neurologische Klinik und Poliklinik
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