• Mutation; HGNC; HGNC:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=1702221).
  

PubMed=1180926; DOI=10.1016/0006-291x(75)90551-3
Fujiwara Y., Tatsumi M.
Repair of mitomycin C damage to DNA in mammalian cells and its impairment in Fanconi's anemia cells.
Biochem. Biophys. Res. Commun. 66:592-598(1975)

PubMed=967189; DOI=10.1016/0027-5107(76)90058-0
Fujiwara Y., Tatsumi M.
Replicative bypass repair of ultraviolet damage to DNA of mammalian cells: caffeine sensitive and caffeine resistant mechanisms.
Mutat. Res. 37:91-110(1976)

PubMed=832273
Takebe H., Miki Y., Kozuka T., Furuyama J.-i., Tanaka K., Sasaki M.S., Fujiwara Y., Akiba H.
DNA repair characteristics and skin cancers of xeroderma pigmentosum patients in Japan.
Cancer Res. 37:490-495(1977)

PubMed=7000335; DOI=10.1016/0304-3835(80)90072-5
Ishizaki K., Yagi T., Takebe H.
Cytotoxic effects of protease inhibitors on human cells. 1. High sensitivity of xeroderma pigmentosum cells to antipain.
Cancer Lett. 10:199-205(1980)

PubMed=7264357; DOI=10.1111/1523-1747.ep12482447
Fujiwara Y., Ichihashi M., Kano Y., Goto K., Shimizu K.
A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.
J. Invest. Dermatol. 77:256-263(1981)

PubMed=6876478; DOI=10.1007/BF01897042
Ikenaga M., Midorikawa M., Abe J., Mimaki T.
The sensitivities to radiations and radiomimetic chemicals of cells from patients with ataxia telangiectasia.
Jinrui Idengaku Zasshi 28:1-10(1983)

PubMed=6096450; DOI=10.1111/1523-1747.ep12260999
Otsuka F., Tarone R.E., Cayeux S., Robbins J.H.
Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome.
J. Invest. Dermatol. 82:480-484(1984)

PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283
Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S., Okada Y.
Characterization of a splicing mutation in group A xeroderma pigmentosum.
Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990)

PubMed=2039995
Yagi T., Tatsumi-Miyajima J., Sato M., Kraemer K.H., Takebe H.
Analysis of point mutations in an ultraviolet-irradiated shuttle vector plasmid propagated in cells from Japanese xeroderma pigmentosum patients in complementation groups A and F.
Cancer Res. 51:3177-3182(1991)

PubMed=1372102; DOI=10.1016/0921-8777(92)90080-M
Satokata I., Tanaka K., Miura N., Narita M., Mimaki T., Satoh Y., Kondo S., Okada Y.
Three nonsense mutations responsible for group A xeroderma pigmentosum.
Mutat. Res. 273:193-202(1992)