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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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Главные авторы: Vemula, Satya R., Xiao, Jianfeng, Bastian, Robert W., Momčilović, Dragana, Blitzer, Andrew, LeDoux, Mark S.
Формат: Artigo
Язык:Inglês
Опубликовано: Lippincott Williams & Wilkins 2014
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Online-ссылка: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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