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Replacement of the myotonic dystrophy type 1 CTG repeat with “non-CTG repeat” insertions in specific tissues

Recently, curious mutations have been reported to occur within the (CTG)n repeat tract of the myotonic dystrophy type 1 (DM1) locus. For example the repeat, long-presumed to be a pure repeat sequence has now been revealed to often contain interruption motifs in a proportion of cases with expansions....

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Библиографические подробности
Главные авторы: Axford, Michelle M, Castel, Arturo López, Nakamori, Masayuki, Thornton, Charles A., Pearson, Christopher E.
Формат: Artigo
Язык:Inglês
Опубликовано: 2011
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3379714/
https://ncbi.nlm.nih.gov/pubmed/21622935
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2010.085944
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