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Frisch et al., 2001 - Google Patents

Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy

Frisch et al., 2001

Document ID
10556586165589411201
Author
Frisch R
Singleton K
Moses P
Gonzalez I
Carango P
Marks H
Funanage V
Publication year
Publication venue
Molecular genetics and metabolism

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Snippet

Myotonic dystrophy (DM), an autosomal dominant neuromuscular disease, is associated with expansion of a polymorphic (CTG) n repeat in the 3′-untranslated region of the DM protein kinase (DMPK) gene. The repeat expansion results in decreased levels of DMPK …
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