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 dystrophyFrisch 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
External Links
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 …
- 102000018658 Myotonin-Protein Kinase 0 title abstract description 114
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