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

PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7
Cleaver J.E.
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
Fujiwara Y., Ichihashi M., Uehara Y., Matsumoto A., Yamamoto Y., Kano Y., Tanakura Y.
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
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=9580660; DOI=10.1093/hmg/7.6.969
Matsumura Y., Nishigori C., Yagi T., Imamura S., Takebe H.
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
Ahmad A., Enzlin J.H., Bhagwat N.R., Wijgers N., Raams A., Appledoorn E., Theil A.F., Hoeijmakers J.H.J., Vermeulen W., Jaspers N.G.J., Scharer O.D., Niedernhofer L.J.
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
PLoS Genet. 6:E1000871-E1000871(2010)