• Mutation; HGNC; HGNC:12814; XPA; Simple; p.Arg207Ter (c.619C>T); ClinVar=VCV000000996; Zygosity=Homozygous (from familial inference of XP25RO).
  

PubMed=4778857; DOI=10.1016/0027-5107(73)90062-6
Wim J. Kleijer, Elizabeth A. de Weerd-Kastelein, Milou L. Sluyter, Wilma Keijzer, Jan de Wit, Dirk Bootsma;
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=4436596; DOI=10.1111/1523-1747.ep12676556
Vazken Movses Der Kaloustian, Elizabeth A. de Weerd-Kastelein, Wim J. Kleijer, Wilma Keijzer, Dirk Bootsma;
The genetic defect in the de Sanctis-Cacchione syndrome.
J. Invest. Dermatol. 63:392-396(1974)

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=273925; DOI=10.1073/pnas.75.4.1984; PMCID=PMC392467
Alan D. Andrews, Susanna F. Barrett, Jay H. Robbins;
Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation.
Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978)

PubMed=6087472; DOI=10.1007/BF01535631
Peter J. Stambrook, Michael K. Dush, John J. Trill, Jay Arnold Tischfield;
Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants.
Somat. Cell Mol. Genet. 10:359-367(1984)