• 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
Anne F. Nichols, Phat Ong, Stuart M. Linn;
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
Vesna Rapic-Otrin, Isao Kuraoka, Tiziana Nardo, Mary McLenigan, Andre P.M. Eker, Miria Stefanini, Arthur S. Levine, Richard Dean Wood;
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
Toshiki Itoh, Stuart M. Linn, Tomomichi Ono, Masaru Yamaizumi;
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
Anne F. Nichols, Toshiki Itoh, Jay A. Graham, Wei Liu, Masaru Yamaizumi, Stuart M. Linn;
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
Vesna Rapic-Otrin, Valentina Navazza, Tiziana Nardo, Elena Botta, Mary McLenigan, Dawn C. Bisi, Arthur S. Levine, Miria Stefanini;
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)