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DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency
journal contribution
posted on 2023-06-07, 20:47 authored by Mark O'DriscollMark O'Driscoll, Karen M Cerosaletti, Pierre-M Girard, Yan Dai, Markus Stumm, Boris Kysela, Betsy Hirsch, Andrew Gennery, Susan E Palmer, Jörg Seidel, Richard A Gatti, Raymonda Varon, Marjorie A Oettinger, Heidemarie Neitzel, Penny Jeggo, Patrick ConcannonNo description supplied
History
Publication status
- Published
Journal
Molecular CellISSN
1097-2765Publisher
ElsevierExternal DOI
Issue
6Volume
8Page range
1175-1185Pages
11.0Department affiliated with
- Sussex Centre for Genome Damage Stability Publications
Notes
I developed several assays to assess the functional consequences of DNA ligase IV mutations (interaction with XRCC4, ability to carry out DNA ligation). I also carried out much of the cellular characterisations. This paper describes the identification of a novel DNA repair syndrome, termed LIG4 syndrome.Full text available
- No
Peer reviewed?
- Yes
Legacy Posted Date
2012-02-06Usage metrics
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