• Mutation; HGNC; HGNC:12816; XPC; Simple; p.Ser225Glnfs*45 (c.671insT); Zygosity=Homozygous (PubMed=10766188).
  

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=4066782; DOI=10.1242/jcs.76.1.115
Robert T. Johnson, Shoshana Squires, George C. Elliott, Gordon L.E. Koch, Andrew J. Rainbow;
Xeroderma pigmentosum D-HeLa hybrids with low and high ultraviolet sensitivity associated with normal and diminished DNA repair ability, respectively.
J. Cell Sci. 76:115-133(1985)

PubMed=3347209; DOI=10.1016/0167-8817(88)90048-x
Shoshana Squires, Robert T. Johnson;
Kinetic analysis of UV-induced incision discriminates between fibroblasts from different xeroderma pigmentosum complementation groups, XPA heterozygotes and normal individuals.
Mutat. Res. 193:181-192(1988)

PubMed=10766188
Franz Chavanne, Bernard C. Broughton, Daniela Pietra, Tiziana Nardo, Alison Browitt, Alan Robert Lehmann, Miria Stefanini;
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.
Cancer Res. 60:1974-1982(2000)

PubMed=18079351; DOI=10.1259/bjr/27072321
Colin Francis Arlett, Michael H.L. Green, Paul Bryan Rogers, Alan Robert Lehmann, Piers N. Plowman;
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)