• Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Phe270Ter (c.807_808delTT); Zygosity=Heterozygous (PubMed=16947863).
  
• Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Gln739fs*42 (c.2218-6C>A) (IVS14-6C>A); Zygosity=Heterozygous (PubMed=16947863).
  

PubMed=6096450; DOI=10.1111/1523-1747.ep12260999
Fujio Otsuka, Robert E. Tarone, Sophie Cayeux, Jay H. Robbins;
Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome.
J. Invest. Dermatol. 82:480-484(1984)

PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283
Ichiro Satokata, Kiyoji Tanaka, Naoyuki Miura, Iwai Miyamoto, Yoshiaki Satoh, Seiji Kondo, Yoshio Okada;
Characterization of a splicing mutation in group A xeroderma pigmentosum.
Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990)

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=8327515; DOI=10.1073/pnas.90.13.6335; PMCID=PMC46923
Masahiko S. Satoh, Christopher J. Jones, Richard Dean Wood, Tomas Robert Lindahl;
DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions.
Proc. Natl. Acad. Sci. U.S.A. 90:6335-6339(1993)

PubMed=11841555; DOI=10.1046/j.0022-202x.2001.01673.x
Philippe Lalle, Thierry Nouspikel, Angelos Constantinou, Fabrizio Thorel, Stuart Gordon Clarkson;
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.
J. Invest. Dermatol. 118:344-351(2002)

PubMed=16947863; DOI=10.1002/humu.20392
Kyu-Seon Oh, Sikandar G. Khan, Nicolaas G.J. Jaspers, Anja Raams, Takahiro Ueda, Alan Robert Lehmann, Peter Simon Friedmann, Steffen Emmert, Alexei Gratchev, Katherine Lachlan, Anneke Lucassan ...Show all 13 authors... , Carl C. Baker, Kenneth H. Kraemer; Show fewer authors
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Hum. Mutat. 27:1092-1103(2006)