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O'Driscoll, Mark, Cerosaletti, Karen M, Girard, Pierre-M, Dai, Yan, Stumm, Markus, Kysela, Boris, Hirsch, Betsy, Gennery, Andrew, Palmer, Susan E, Seidel, Jörg, Gatti, Richard A, Varon, Raymonda, Oettinger, Marjorie A, Neitzel, Heidemarie, Jeggo, Penny A and Concannon, Patrick (2001) DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Molecular Cell, 8 (6). pp. 1175-1185. ISSN 1097-2765
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Official URL: http://www.cell.com/molecular-cell/abstract/S1097-...
Item Type: | Article |
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Additional Information: | 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. |
Schools and Departments: | School of Life Sciences > Sussex Centre for Genome Damage and Stability |
Depositing User: | Mark O'Driscoll |
Date Deposited: | 06 Feb 2012 18:37 |
Last Modified: | 30 Nov 2012 17:00 |
URI: | http://sro.sussex.ac.uk/id/eprint/17485 |