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Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.

The most common form of adult muscular dystrophy, myotonic dystrophy (DM), is caused by the abnormal expansion of the CTG repeat, located in the 3' UTR of the DM gene. The expanded-CTG allele often presents as a diffused band on Southern blot analysis, suggesting somatic mosaicism. In order to...

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Библиографические подробности
Главные авторы: Wong, L J, Ashizawa, T, Monckton, D G, Caskey, C T, Richards, C S
Формат: Artigo
Язык:Inglês
Опубликовано: 1995
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801291/
https://ncbi.nlm.nih.gov/pubmed/7825566
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