• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Glu456Glyfs*8 (c.1364dupA); Zygosity=Hemizygous or homozygous (PubMed=9580660).
  

PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7
James Edward Cleaver;
DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines.
Mech. Ageing Dev. 27:189-196(1984)

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=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=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=20221251; DOI=10.1371/journal.pgen.1000871; PMCID=PMC2832669
Anwaar Ahmad, Jacqueline Henriette Enzlin, Nikhil R. Bhagwat, Nils Wijgers, Anja Raams, Esther Appledoorn, Arjan F. Theil, Jan Hendrik Jozef Hoeijmakers, Wim Vermeulen, Nicolaas G.J. Jaspers, Orlando David Scharer, Laura J. Niedernhofer;
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
PLoS Genet. 6:e1000871.1-e1000871.11(2010)