• Mutation; HGNC; HGNC:9181; POLH; Simple; p.Leu178Profs*2 (c.533_534delTT) (del 770-771); ClinVar=VCV000005886; Zygosity=Unspecified (PubMed=10385124).
  

PubMed=4778857; DOI=10.1016/0027-5107(73)90062-6
Kleijer W.J., de Weerd-Kastelein E.A., Sluyter M.L., Keijzer W., de Wit J., Bootsma D.
UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes.
Mutat. Res. 20:417-428(1973)

PubMed=1214825; DOI=10.1016/0027-5107(75)90209-2
Arlett C.F., Harcourt S.A., Broughton B.C.
The influence of caffeine on cell survival in excision-proficient and excision-deficient xeroderma pigmentosum and normal human cell strains following ultraviolet-light irradiation.
Mutat. Res. 33:341-346(1975)

PubMed=837385
Lehmann A.R., Kirk-Bell S., Arlett C.F., Harcourt S.A., de Weerd-Kastelein E.A., Keijzer W., Hall-Smith P.
Repair of ultraviolet light damage in a variety of human fibroblast cell strains.
Cancer Res. 37:904-910(1977)

PubMed=7471106
Arlett C.F., Harcourt S.A.
Survey of radiosensitivity in a variety of human cell strains.
Cancer Res. 40:926-932(1980)

PubMed=6947227; DOI=10.1073/pnas.78.10.6236; PMCID=PMC349013
Miskin R., Ben-Ishai R.
Induction of plasminogen activator by UV light in normal and xeroderma pigmentosum fibroblasts.
Proc. Natl. Acad. Sci. U.S.A. 78:6236-6240(1981)

PubMed=10385124; DOI=10.1038/21447
Masutani C., Kusumoto R., Yamada A., Dohmae N., Yokoi M., Yuasa M., Araki M., Iwai S., Takio K., Hanaoka F.
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.
Nature 399:700-704(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)