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Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes

BACKGROUND: Spinocerebellar ataxia (SCA) subtypes are often caused by expansions in non-coding regions of genes like SCA8, SCA10, SCA12 and SCA36. Other ataxias are known to be associated with repeat expansions such as fragile X-associated tremor ataxia syndrome (FXTAS) or expansions in the C9orf72...

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Библиографические подробности
Опубликовано в: :BMC Neurol
Главные авторы: Aydin, Gülsah, Dekomien, Gabriele, Hoffjan, Sabine, Gerding, Wanda Maria, Epplen, Jörg T., Arning, Larissa
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2018
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5761156/
https://ncbi.nlm.nih.gov/pubmed/29316893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-017-1009-9
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