• 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
Wim J. Kleijer, Elizabeth A. de Weerd-Kastelein, Milou L. Sluyter, Wilma Keijzer, Jan de Wit, Dirk Bootsma;
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
Colin Francis Arlett, Susan A. Harcourt, Bernard C. Broughton;
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
Alan R. Lehmann, Susan Kirk-Bell, Colin Francis Arlett, Susan A. Harcourt, Elizabeth A. de Weerd-Kastelein, Wilma Keijzer, Patrick Hall-Smith;
Repair of ultraviolet light damage in a variety of human fibroblast cell strains.
Cancer Res. 37:904-910(1977)

PubMed=7471106
Colin Francis Arlett, Susan A. Harcourt;
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
Ruth Miskin, Ruth Ben-Ishai;
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
Chikahide Masutani, Rika Kusumoto, Ayumi Yamada, Naoshi Dohmae, Masayuki Yokoi, Mayumi Yuasa, Marito Araki, Shigenori Iwai, Koji Takio, Fumio Hanaoka;
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
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)