• Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Arg278His (c.833G>A); ClinVar=VCV000007675; Zygosity=Unspecified (PubMed=10395545).
  

PubMed=2400879; DOI=10.1259/0007-1285-63-752-624
Piers N. Plowman, Bryn A. Bridges, Colin Francis Arlett, Anke Hinney, Judith Eve Kingston;
An instance of clinical radiation morbidity and cellular radiosensitivity, not associated with ataxia-telangiectasia.
Br. J. Radiol. 63:624-628(1990)

PubMed=7882314
Christophe Badie, George Iliakis, Nicolas Foray, Ghazi A. Alsbeih, Gabriel E. Pantellias, Ryuichi Okayasu, Nge Cheong, Nicola S. Russell, Adrian C. Begg, Colin Francis Arlett, Edmond-Philippe Malaise;
Defective repair of DNA double-strand breaks and chromosome damage in fibroblasts from a radiosensitive leukemia patient.
Cancer Res. 55:1232-1234(1995)

PubMed=8609460; DOI=10.1080/095530096146075
Ghazi A. Alsbeih, Bernard Fertil, Colin Francis Arlett, Edmond-Philippe Malaise;
High split-dose recovery in hypersensitive human fibroblasts: a case of induced radioresistance?
Int. J. Radiat. Biol. 69:225-239(1996)

PubMed=9426062
Hong Lu, Qi-Zhong Song, Colin Francis Arlett, Martin Francis Lavin;
The radiosensitive cell line 180BR is not defective in the major DNA damage-sensing proteins.
Cancer Res. 58:84-88(1998)

PubMed=10395545; DOI=10.1016/S0960-9822(99)80311-X
Enriqueta Riballo, Susan E. Critchlow, Soo-Hwang Teo, Aidan J. Doherty, Anne Priestley, Bernard C. Broughton, Boris Kysela, Heather J. Beamish, Nicholas Plowman, Colin Francis Arlett, Alan R. Lehmann ...Show all 13 authors... , Stephen Philip Jackson, Penelope Ann Jeggo; Show fewer authors
Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient.
Curr. Biol. 9:699-702(1999)

PubMed=15574327; DOI=10.1016/j.molcel.2004.10.029
Enriqueta Riballo, Martin Kuhne, Nicole Rief, Aidan J. Doherty, Graeme C.M. Smith, Maria-Jose Recio, Caroline Reis, Kirsten Dahm, Andreas Fricke, Andrea Krempler, Antony R. Parker ...Show all 15 authors... , Stephen Philip Jackson, Andrew R. Gennery, Penelope Ann Jeggo, Markus Lobrich; Show fewer authors
A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci.
Mol. Cell 16:715-724(2004)

PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013
Paul F. Wilson, Peter B. Nham, Salustra S. Urbin, John M. Hinz, Irene M. Jones, Lawrence H. Thompson;
Inter-individual variation in DNA double-strand break repair in human fibroblasts before and after exposure to low doses of ionizing radiation.
Mutat. Res. 683:91-97(2010)