• Mutation; HGNC; HGNC:9181; POLH; Simple; p.Gly263Val (c.788G>T); dbSNP=rs1413703153; Zygosity=Homozygous (PubMed=11773631).
  

PubMed=1372096; DOI=10.1016/0921-8777(92)90074-d
Arlett C.F., Harcourt S.A., Cole J., Green M.H.L., Anstey A.V.
A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C.
Mutat. Res. 273:127-135(1992)

PubMed=1372100; DOI=10.1016/0921-8777(92)90078-H
Cole J., Arlett C.F., Norris P.G., Stephens G., Waugh A.P.W., Beare D.M., Green M.H.L.
Elevated hprt mutant frequency in circulating T-lymphocytes of xeroderma pigmentosum patients.
Mutat. Res. 273:171-178(1992)

PubMed=10022907; DOI=10.1128/mcb.19.3.2206; PMCID=PMC84013
Cordonnier A.M., Lehmann A.R., Fuchs R.P.P.
Impaired translesion synthesis in xeroderma pigmentosum variant extracts.
Mol. Cell. Biol. 19:2206-2211(1999)

PubMed=11773631; DOI=10.1073/pnas.022473899; PMCID=PMC117388
Broughton B.C., Cordonnier A.M., Kleijer W.J., Jaspers N.G.J., Fawcett H., Raams A., Garritsen V.H., Stary A., Avril M.-F., Boudsocq F., Masutani C., Hanaoka F., Fuchs R.P.P., Sarasin A., Lehmann A.R.
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.
Proc. Natl. Acad. Sci. U.S.A. 99:815-820(2002)

PubMed=18079351; DOI=10.1259/bjr/27072321
Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)