• Mutation; HGNC; 3434; ERCC2; Simple; p.Gly602Asp (c.1805G>A); ClinVar=VCV002138306; Zygosity=Heterozygous (PubMed=7585650; PubMed=26184184).
  

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

PubMed=3922833; DOI=10.20772/cancersci1985.76.3_162
Fujiwara Y., Satoh Y.
Assignment of two Japanese xeroderma pigmentosum patients to complementation group D and their characteristics.
Jpn. J. Cancer Res. 76:162-166(1985)

PubMed=3341805; DOI=10.1001/archderm.1988.01670020074021
Ichihashi M., Yamamura K., Hiramoto T., Fujiwara Y.
No apparent neurologic defect in a patient with xeroderma pigmentosum complementation group D.
Arch. Dermatol. 124:256-260(1988)

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

CLPUB00447
Mulivor R.A., Suchy S.F.
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=1372108; DOI=10.1016/0921-8777(92)90072-b
Johnson R.T., Squires S.
The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.
Mutat. Res. 273:97-118(1992)

PubMed=7585650
Takayama K., Salazar E.P., Lehmann A.R., Stefanini M., Thompson L.H., Weber C.A.
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
Cancer Res. 55:5656-5663(1995)

PubMed=7825573; PMCID=PMC1801309
Broughton B.C., Thompson A.F., Harcourt S.A., Vermeulen W., Hoeijmakers J.H.J., Botta E., Stefanini M., King M.D., Weber C.A., Cole J., Arlett C.F., Lehmann A.R.
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=8823375; DOI=10.1111/1523-1747.ep12584287
Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J., Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W., Broughton B.C., Kraemer K.H.
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells.
J. Invest. Dermatol. 107:647-653(1996)

PubMed=26184184; DOI=10.3390/ijms160715985; PMCID=PMC4519934
Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.
Understanding xeroderma pigmentosum complementation groups using gene expression profiling after UV-light exposure.
Int. J. Mol. Sci. 16:15985-15996(2015)