• Mutation; HGNC; HGNC:2718; DDB2; Simple; p.Lys244Glu (c.730A>G); ClinVar=VCV000008787; Zygosity=Homozygous (PubMed=8798680; PubMed=10777490).
  

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=9584159; DOI=10.1128/mcb.18.6.3182; PMCID=PMC108900
Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M., Stefanini M., Levine A.S., Wood R.D.
Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A.
Mol. Cell. Biol. 18:3182-3190(1998)

PubMed=10771487; DOI=10.1046/j.1523-1747.2000.00952.x
Itoh T., Linn S.M., Ono T., Yamaizumi M.
Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them.
J. Invest. Dermatol. 114:1022-1029(2000)

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)

PubMed=12812979; DOI=10.1093/hmg/ddg174
Rapic-Otrin V., Navazza V., Nardo T., Botta E., McLenigan M., Bisi D.C., Levine A.S., Stefanini M.
True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.
Hum. Mol. Genet. 12:1507-1522(2003)