• Mutation; HGNC; 2718; DDB2; Simple; p.Arg273His (c.818G>A); ClinVar=VCV000008788; Zygosity=Homozygous (PubMed=8798680; PubMed=10777490).
  

PubMed=4778857; DOI=10.1016/0027-5107(73)90062-6
Kleijer W.J., de Weerd-Kastelein E.A., Sluyter M.L., Keijzer W., de Wit J., Bootsma D.
UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes.
Mutat. Res. 20:417-428(1973)

PubMed=4842087; DOI=10.1016/0027-5107(74)90013-x
de Weerd-Kastelein E.A., Keijzer W., Bootsma D.
A third complementation group in xeroderma pigmentosum.
Mutat. Res. 22:87-91(1974)

PubMed=8798680; DOI=10.1074/jbc.271.40.24317
Nichols A.F., Ong P., Linn S.M.
Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.
J. Biol. Chem. 271:24317-24320(1996)

PubMed=10777490; DOI=10.1074/jbc.M000960200
Nichols A.F., Itoh T., Graham J.A., Liu W., Yamaizumi M., Linn S.M.
Human damage-specific DNA-binding protein p48. Characterization of XPE mutations and regulation following UV irradiation.
J. Biol. Chem. 275:21422-21428(2000)