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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Blackwell Publishing Ltd 2013
Gaiak:
Original Articles
Sarrera elektronikoa: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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