• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Gly47Arg (c.139G>A); ClinVar=VCV001176084; Zygosity=Heterozygous (PubMed=9238033).
  
• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (PubMed=9238033).
  
• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (PubMed=9238033).
  

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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=1372096; DOI=10.1016/0921-8777(92)90074-d
Colin Francis Arlett, Susan A. Harcourt, Jane Cole, Michael H.L. Green, Alexander Vincent Anstey;
A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C.
Mutat. Res. 273:127-135(1992)

PubMed=1372108; DOI=10.1016/0921-8777(92)90072-b
Robert T. Johnson, Shoshana Squires;
The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.
Mutat. Res. 273:97-118(1992)

PubMed=7825573; PMCID=PMC1801309
Bernard C. Broughton, Annette F. Thompson, Susan A. Harcourt, Wim Vermeulen, Jan Hendrik Jozef Hoeijmakers, Elena Botta, Miria Stefanini, Mary D. King, Christine A. Weber, Jane Cole, Colin Francis Arlett, Alan R. Lehmann;
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
Am. J. Hum. Genet. 56:167-174(1995)

PubMed=9238033; DOI=10.1073/pnas.94.16.8658; PMCID=PMC23065
Elaine M. Taylor, Bernard C. Broughton, Elena Botta, Miria Stefanini, Alain Sarasin, Nicolaas G.J. Jaspers, Heather Fawcett, Susan A. Harcourt, Colin Francis Arlett, Alan R. Lehmann;
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
Proc. Natl. Acad. Sci. U.S.A. 94:8658-8663(1997)

PubMed=18079351; DOI=10.1259/bjr/27072321
Colin Francis Arlett, Michael H.L. Green, Paul Bryan Rogers, Alan R. Lehmann, Piers N. Plowman;
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)