Candidate variants in TUB are associated with familial tremor

Essential tremor (ET) is the most common adult-onset movement disorder. In the present study, we performed whole exome sequencing of a large ET-affected family (10 affected and 6 un-affected family members) and identified a TUB p.V431I variant (rs75594955) segregating in a manner consistent with aut...

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Detalles Bibliográficos
Autores principales: Sailani, M. Reza, Jahanbani, Fereshteh, Abbott, Charles W., Lee, Hayan, Zia, Amin, Rego, Shannon, Winkelmann, Juliane, Hopfner, Franziska, Khan, Tahir N., Katsanis, Nicholas, Müller, Stefanie H., Berg, Daniela, Lyman, Katherine M., Mychajliw, Christian, Deuschl, Günther, Bernstein, Jonathan A., Kuhlenbäumer, Gregor, Snyder, Michael P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7529431/
https://www.ncbi.nlm.nih.gov/pubmed/32956375
http://dx.doi.org/10.1371/journal.pgen.1009010

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