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Pathogenic variants in TUBB4A are not found in primary dystonia
OBJECTIVE: To determine the contribution of TUBB4A, recently associated with DYT4 dystonia in a pedigree with “whispering dysphonia” from Norfolk, United Kingdom, to the etiopathogenesis of primary dystonia. METHODS: High-resolution melting and Sanger sequencing were used to inspect the entire codin...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Lippincott Williams & Wilkins
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4001202/ https://ncbi.nlm.nih.gov/pubmed/24598712 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000294 |
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