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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2013
Assuntos:
Original Articles
Acesso em linha: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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