• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg490Gln (c.1469G>A) (R479Q); ClinVar=VCV001723249; Zygosity=Heterozygous (PubMed=9580660).
  
• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Leu608Pro (c.1823T>C) (L599P); Zygosity=Heterozygous (PubMed=9580660).
  

CLPUB00387
Lewis Lemon Coriell, Arthur E. Greene, Richard A. Mulivor;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980)

PubMed=3834095; DOI=10.1269/jrr.26.443
Yoshisada Fujiwara, Masamitsu Ichihashi, Yoshihiko Uehara, Akira Matsumoto, Yoko Yamamoto, Yoshio Kano, Yoshimasa Tanakura;
Xeroderma pigmentosum groups C and F: additional assignments and a review of the subjects in Japan.
J. Radiat. Res. 26:443-449(1985)

PubMed=3922833; DOI=10.20772/cancersci1985.76.3_162
Yoshisada Fujiwara, Yoshiaki Satoh;
Assignment of two Japanese xeroderma pigmentosum patients to complementation group D and their characteristics.
Jpn. J. Cancer Res. 76:162-166(1985)

PubMed=4031543; DOI=10.1111/1523-1747.ep12276776
Masamitsu Ichihashi, Yoshisada Fujiwara, Yoshihiko Uehara, Akira Matsumoto;
A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity.
J. Invest. Dermatol. 85:284-287(1985)

PubMed=3010096; DOI=10.1016/0167-8817(86)90052-0
Dina P. Barbis, Roger A. Schultz, Errol Clive Friedberg;
Isolation and partial characterization of virus-transformed cell lines representing the A, G and variant complementation groups of xeroderma pigmentosum.
Mutat. Res. 165:175-184(1986)

PubMed=1814424
Chikako Nishigori, Hiroshi Fujisawa, Kenichi Uyeno, Toshio Kawaguchi, Hiraku Takebe;
Xeroderma pigmentosum patients belonging to complementation group F and efficient liquid-holding recovery of ultraviolet damage.
Photodermatol. Photoimmunol. Photomed. 8:146-150(1991)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=9025096; DOI=10.1093/mutage/12.1.41
Takashi Yagi, Richard Dean Wood, Hiraku Takebe;
A low content of ERCC1 and a 120 kDa protein is a frequent feature of group F xeroderma pigmentosum fibroblast cells.
Mutagenesis 12:41-44(1997)

PubMed=9580660; DOI=10.1093/hmg/7.6.969
Yasuhiro Matsumura, Chikako Nishigori, Takashi Yagi, Sadao Imamura, Hiraku Takebe;
Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms.
Hum. Mol. Genet. 7:969-974(1998)

PubMed=26184184; DOI=10.3390/ijms160715985; PMCID=PMC4519934
Nikola A. Bowden, Natalie J. Beveridge, Katie A. Ashton, Katherine J. Baines, Rodney James Scott;
Understanding xeroderma pigmentosum complementation groups using gene expression profiling after UV-light exposure.
Int. J. Mol. Sci. 16:15985-15996(2015)