• Mutation; HGNC; HGNC:9181; POLH; Simple; p.Lys220fs (c.661_764del); Zygosity=Homozygous (PubMed=14705792).
  

PubMed=7059984
James Edward Cleaver;
Inactivation of ultraviolet repair in normal and xeroderma pigmentosum cells by methyl methanesulfonate.
Cancer Res. 42:860-863(1982)

PubMed=7161312; DOI=10.1007/BF00406246
Heinz Walter Thielmann, Odilia Popanda, Lutz Edler;
XP patients from Germany: correlation of colony-forming ability, unscheduled DNA synthesis and single-strand breaks after UV damage in xeroderma pigmentosum fibroblasts.
J. Cancer Res. Clin. Oncol. 104:263-286(1982)

PubMed=7165374; DOI=10.1007/BF00403726
Elizabeth Fischer, Heinz Walter Thielmann, Bernhard Neundorfer, Friedrich Johannes Rentsch, Lutz Edler, Ernst Gustav Jung;
Xeroderma pigmentosum patients from Germany: clinical symptoms and DNA repair characteristics.
Arch. Dermatol. Res. 274:229-247(1982)

PubMed=3182904; DOI=10.1007/BF00391492
Odilia Popanda, Heinz Walter Thielmann;
Comparison of DNA-incising capacities in fibroblast strains from the Mannheim XP collection after treatment with N-acetoxy-2-acetylaminofluorene and UV light.
J. Cancer Res. Clin. Oncol. 114:459-467(1988)

PubMed=2054785
Heinz Walter Thielmann, Odilia Popanda, Lutz Edler, Ernst Gustav Jung;
Clinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany.
Cancer Res. 51:3456-3470(1991)

PubMed=14705792; DOI=10.1034/j.1600-0625.2003.00124.x
Alexei Gratchev, Pamela Strein, Jochen Sven Utikal, Sergij Goerdt;
Molecular genetics of xeroderma pigmentosum variant.
Exp. Dermatol. 12:529-536(2003)