X84813[Secondary Source ID] - Search Results

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Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene.

Thornton CA, Wymer JP, Simmons Z, McClain C, Moxley RT 3rd. Thornton CA, et al. Nat Genet. 1997 Aug;16(4):407-9. doi: 10.1038/ng0897-407. Nat Genet. 1997. PMID: 9241283

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.

Boucher CA, King SK, Carey N, Krahe R, Winchester CL, Rahman S, Creavin T, Meghji P, Bailey ME, Chartier FL, et al. Boucher CA, et al. Hum Mol Genet. 1995 Oct;4(10):1919-25. doi: 10.1093/hmg/4.10.1919. Hum Mol Genet. 1995. PMID: 8595416

250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1.

Savić D, Rakocvic-Stojanovic V, Keckarevic D, Culjkovic B, Stojkovic O, Mladenovic J, Todorovic S, Apostolski S, Romac S. Savić D, et al. Hum Mutat. 2002 Feb;19(2):131-9. doi: 10.1002/humu.10027. Hum Mutat. 2002. PMID: 11793472

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