• Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Ala792Val (c.2375C>T) (2572C>T); ClinVar=VCV000016567; Zygosity=Heterozygous (PubMed=7951246).
  
• Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Glu960Ter (c.2878G>T) (3075G>T); ClinVar=VCV000016566; Zygosity=Heterozygous (PubMed=7951246).
  

PubMed=8327515; DOI=10.1073/pnas.90.13.6335; PMCID=PMC46923
Satoh M.S., Jones C.J., Wood R.D., Lindahl T.R.
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=8483504; DOI=10.1038/363182a0
Scherly D., Nouspikel T., Corlet J., Ucla C., Bairoch A., Clarkson S.G.
Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2.
Nature 363:182-185(1993)

PubMed=8483505; DOI=10.1038/363185a0
O'Donovan A., Wood R.D.
Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5.
Nature 363:185-188(1993)

PubMed=7951246; DOI=10.1093/hmg/3.6.963
Nouspikel T., Clarkson S.G.
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.
Hum. Mol. Genet. 3:963-967(1994)

PubMed=9096355; DOI=10.1073/pnas.94.7.3116; PMCID=PMC20331
Nouspikel T., Lalle P., Leadon S.A., Cooper P.K., Clarkson S.G.
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.
Proc. Natl. Acad. Sci. U.S.A. 94:3116-3121(1997)