DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

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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Item Type: Article
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://srodev.sussex.ac.uk/id/eprint/17485
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