• 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
Colin Francis Arlett, Susan A. Harcourt, Jane Cole, Michael H.L. Green, Alexander Vincent Anstey;
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
Jane Cole, Colin Francis Arlett, Paul G. Norris, Gabriella Stephens, Alastair P.W. Waugh, David M. Beare, Michael H.L. Green;
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
Agnes M. Cordonnier, Alan R. Lehmann, Robert P.P. Fuchs;
Impaired translesion synthesis in xeroderma pigmentosum variant extracts.
Mol. Cell. Biol. 19:2206-2211(1999)

PubMed=11773631; DOI=10.1073/pnas.022473899; PMCID=PMC117388
Bernard C. Broughton, Agnes M. Cordonnier, Wim J. Kleijer, Nicolaas G.J. Jaspers, Heather Fawcett, Anja Raams, Victor H. Garritsen, Anne Stary, Marie-Francoise Avril, Francois Boudsocq, Chikahide Masutani ...Show all 15 authors... , Fumio Hanaoka, Robert P.P. Fuchs, Alain Sarasin, Alan R. Lehmann; Show fewer authors
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
Colin Francis Arlett, Michael H.L. Green, Paul Bryan Rogers, Alan R. Lehmann, Piers N. Plowman;
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)