• 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
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=4436596; DOI=10.1111/1523-1747.ep12676556
Der Kaloustian V.M., de Weerd-Kastelein E.A., Kleijer W.J., Keijzer W., Bootsma D.
The genetic defect in the de Sanctis-Cacchione syndrome.
J. Invest. Dermatol. 63:392-396(1974)

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
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
Andrews A.D., Barrett S.F., Robbins J.H.
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
Stambrook P.J., Dush M.K., Trill J.J., Tischfield J.A.
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)