• 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
Plowman P.N., Bridges B.A., Arlett C.F., Hinney A., Kingston J.E.
An instance of clinical radiation morbidity and cellular radiosensitivity, not associated with ataxia-telangiectasia.
Br. J. Radiol. 63:624-628(1990)

PubMed=7882314
Badie C., Iliakis G., Foray N., Alsbeih G.A., Pantellias G.E., Okayasu R., Cheong N., Russell N.S., Begg A.C., Arlett C.F., Malaise E.-P.
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
Alsbeih G.A., Fertil B., Arlett C.F., Malaise E.-P.
High split-dose recovery in hypersensitive human fibroblasts: a case of induced radioresistance?
Int. J. Radiat. Biol. 69:225-239(1996)

PubMed=9426062
Lu H., Song Q.-Z., Arlett C.F., Lavin M.F.
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
Riballo E., Critchlow S.E., Teo S.-H., Doherty A.J., Priestley A., Broughton B.C., Kysela B., Beamish H.J., Plowman N., Arlett C.F., Lehmann A.R., Jackson S.P., Jeggo P.A.
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
Riballo E., Kuhne M., Rief N., Doherty A.J., Smith G.C.M., Recio M.-J., Reis C., Dahm K., Fricke A., Krempler A., Parker A.R., Jackson S.P., Gennery A.R., Jeggo P.A., Lobrich M.
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
Wilson P.F., Nham P.B., Urbin S.S., Hinz J.M., Jones I.M., Thompson L.H.
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)