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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 Concannon
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History

Publication status

  • Published

Journal

Molecular Cell

ISSN

1097-2765

Publisher

Elsevier

Issue

6

Volume

8

Page range

1175-1185

Pages

11.0

Department 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

2012-02-06

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