Single-base substitutions in the CHM promoter as a cause of choroideremia.
Radziwon A, Arno G, K Wheaton D, McDonagh EM, Baple EL, Webb-Jones K, G Birch D, Webster AR, MacDonald IM
Hum Mutat. 2017 Jun;38(6):704-715. doi: 10.1002/humu.23212. Epub 2017 Mar 24.
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Plasmids from Article
| ID | Plasmid | Purpose |
|---|---|---|
| 261177 | pGL3-(CHM)-c.-1093_-31 | Encodes sequence upstream of the CHM gene (REP1) to test promoter mutations using luciferase |