Mutations in the Autoregulatory Domain of β-Tubulin 4a Cause Hereditary Dystonia

Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with an autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a characteristic hobby horse ataxic gait. We carried out a genetic linkage analysis in the extended DYT4 family that spanned 7 g...

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Bibliografiske detaljer
Main Authors: Hersheson, Joshua, Mencacci, Niccolo E, Davis, Mary, MacDonald, Nicola, Trabzuni, Daniah, Ryten, Mina, Pittman, Alan, Paudel, Reema, Kara, Eleanna, Fawcett, Katherine, Plagnol, Vincent, Bhatia, Kailash P, Medlar, Alan J, Stanescu, Horia C, Hardy, John, Kleta, Robert, Wood, Nicholas W, Houlden, Henry
Format: Artigo
Sprog:Inglês
Udgivet: Blackwell Publishing Ltd 2013
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3698699/
https://ncbi.nlm.nih.gov/pubmed/23424103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.23832
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