Article
A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1.
Human molecular genetics - 1 Oct 1997
Breschel T S, McInnis M G, Margolis R L, Sirugo G, Corneliussen B, Simpson S G, McMahon F J, MacKinnon D F, Xu J F, Pleasant N, Huo Y, Ashworth R G, Grundstrom C, Grundstrom T, Kidd K K, DePaulo J R, Ross C A
Abstract excerpt
There are currently 13 diseases known to be caused by unstable triplet repeat mutations; however, there are some instances (as with FRAXF and FRA16) when these mutations appear to be asymptomatic. In a search for polymorphic CTG repeats as candidate genes for bipolar disorder, we screened a genomic human chromosome 18-specific library and identified a 1.6 kb clone (7,6A) with a CTG24 repeat that maps to 18q21.1....
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