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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Blackwell Publishing Ltd 2013
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Original Articles
On-line přístup: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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