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Whispering Dysphonia (DYT4 Dystonia) Is Caused by a Mutation in the TUBB4 Gene

OBJECTIVE: A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family. METHODS: Genome-wide linkage analysis was carri...

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Bibliografski detalji
Izdano u:Ann Neurol
Glavni autori: Lohmann, Katja, Wilcox, Robert A., Winkler, Susen, Ramirez, Alfredo, Rakovic, Aleksandar, Park, Jin-Sung, Arns, Björn, Lohnau, Thora, Groen, Justus, Kasten, Meike, Brüggemann, Norbert, Hagenah, Johann, Schmidt, Alexander, Kaiser, Frank J., Kumar, Kishore R., Zschiedrich, Katja, Alvarez-Fischer, Daniel, Altenmüller, Eckart, Ferbert, Andreas, Lang, Anthony E., Münchau, Alexander, Kostic, Vladimir, Simonyan, Kristina, Agzarian, Marc, Ozelius, Laurie J., Langeveld, Antonius P. M., Sue, Carolyn M., Tijssen, Marina A. J., Klein, Christine
Format: Artigo
Jezik:Inglês
Izdano: 2013
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6956988/
https://ncbi.nlm.nih.gov/pubmed/23595291
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.23829
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