• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Ile225Met (c.675A>G) (I214M); Zygosity=Heterozygous (PubMed=9580660).
  
• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Gly513Arg (c.1537G>A) (G502R); Zygosity=Heterozygous (PubMed=9580660).
  

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=2570806; DOI=10.1111/1523-1747.ep12284030
Hae-Ryong Chang, Kanji Ishizaki, Masao S. Sasaki, Junya Toguchida, Mitsuo Kato, Yusuke Nakamura, Susumu Kawamura, Takahiko Moriguchi, Mituo Ikenaga;
Somatic mosaicism for DNA repair capacity in fibroblasts derived from a group A xeroderma pigmentosum patient.
J. Invest. Dermatol. 93:460-465(1989)

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)

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)