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Epigenetic Promoter Silencing in Friedreich Ataxia is Dependent on Repeat Length
OBJECTIVE: Friedreich ataxia (FRDA) is caused by an expanded GAA triplet-repeat (GAA-TR) mutation in the FXN gene. Patients are typically homozygous for expanded alleles containing 100–1300 triplets, and phenotypic severity is significantly correlated with the length of the shorter of the two expand...
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| Главные авторы: | , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2014
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4191993/ https://ncbi.nlm.nih.gov/pubmed/25112975 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24249 |
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