• Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Phe270Ter (c.807_808delTT); Zygosity=Heterozygous (from autologous cell line XP11BE LCL).
  
• Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Gln739fs*42 (c.2218-6C>A) (IVS14-6C>A); Zygosity=Heterozygous (from autologous cell line XP11BE LCL).
  

PubMed=4811796; DOI=10.7326/0003-4819-80-2-221
Jay H. Robbins, Kenneth H. Kraemer, Marvin A. Lutzner, Barry W. Festoff, Hayden G. Coon;
Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.
Ann. Intern. Med. 80:221-248(1974)

PubMed=1034206; DOI=10.1016/0027-5107(76)90044-0
Elizabeth A. de Weerd-Kastelein, Wilma Keijzer, M. Sabour, Jennifer M. Parrington, Dirk Bootsma;
A xeroderma pigmentosum patient having a high residual activity of unscheduled DNA synthesis after UV is assigned to complementation group A.
Mutat. Res. 37:307-312(1976)

PubMed=837385
Alan R. Lehmann, Susan Kirk-Bell, Colin Francis Arlett, Susan A. Harcourt, Elizabeth A. de Weerd-Kastelein, Wilma Keijzer, Patrick Hall-Smith;
Repair of ultraviolet light damage in a variety of human fibroblast cell strains.
Cancer Res. 37:904-910(1977)

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=2175267; DOI=10.1016/0014-4827(90)90012-Y
Bernard Klein, Albert Pastink, Hanny Odijk, Andries Westerveld, Alex Jan van der Eb;
Transformation and immortalization of diploid xeroderma pigmentosum fibroblasts.
Exp. Cell Res. 191:256-262(1990)

PubMed=9012405; PMCID=PMC1712398
Geert Weeda, Eric Eveno, Ingrid Donker, Wim Vermeulen, Odile Chevallier-Lagente, Alain Taieb, Anne Stary, Jan Hendrik Jozef Hoeijmakers, Mauro Mezzina, Alain Sarasin;
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Am. J. Hum. Genet. 60:320-329(1997)

PubMed=9579555; DOI=10.1046/j.1523-1747.1998.00171.x
Anneke M. Sijbers, Pieter C. van Voorst Vader, Jos W. Snoek, Anja Raams, Nicolaas G.J. Jaspers, Wim J. Kleijer;
Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.
J. Invest. Dermatol. 110:832-836(1998)

PubMed=15572672; DOI=10.1128/mcb.24.24.10670-10680.2004; PMCID=PMC533987
Fabrizio Thorel, Angelos Constantinou, Isabelle Dunand-Sauthier, Thierry Nouspikel, Philippe Lalle, Anja Raams, Nicolaas G.J. Jaspers, Wim Vermeulen, Mahmud K.K. Shivji, Richard Dean Wood, Stuart Gordon Clarkson;
Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage.
Mol. Cell. Biol. 24:10670-10680(2004)