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

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=4066782; DOI=10.1242/jcs.76.1.115
Johnson R.T., Squires S., Elliott G.C., Koch G.L.E., Rainbow A.J.
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
Squires S., Johnson R.T.
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
Chavanne F., Broughton B.C., Pietra D., Nardo T., Browitt A., Lehmann A.R., Stefanini M.
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
Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)