• Mutation; HGNC; 12814; XPA; Simple; c.507-2A>G (IVS3-2A>G); Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=8595429).
  

PubMed=7252263; DOI=10.1111/1523-1747.ep12479271
Cleaver J.E., Zelle B., Hashem N., El-Hefnawi M.H., German J.L. 3rd
Xeroderma pigmentosum patients from Egypt: II. Preliminary correlations of epidemiology, clinical symptoms and molecular biology.
J. Invest. Dermatol. 77:96-101(1981)

PubMed=7163956; DOI=10.1007/BF01543020
Cleaver J.E.
Rapid complementation method for classifying excision repair-defective xeroderma pigmentosum cell strains.
Somatic Cell Genet. 8:801-810(1982)

PubMed=6684957; DOI=10.1007/BF01172877
Kuhnlein U., Tsang S.S., Lokken O., Tong S., Twa D.
Cell lines from xeroderma pigmentosum complementation group A lack a single-stranded-DNA-binding activity.
Biosci. Rep. 3:667-674(1983)

PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7
Cleaver J.E.
DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines.
Mech. Ageing Dev. 27:189-196(1984)

PubMed=3030788; DOI=10.1016/0014-4827(87)90214-X
Wood C.M., Timme T.L., Hurt M.M., Brinkley B.R., Ledbetter D.H., Moses R.E.
Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid.
Exp. Cell Res. 169:543-553(1987)

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)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

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)

PubMed=8595429; DOI=10.1093/hmg/4.10.1993
Satokata I., Uchiyama M., Tanaka K.
Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum.
Hum. Mol. Genet. 4:1993-1994(1995)

PubMed=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6
States J.C., McDuffie E.R., Myrand S.P., McDowell M.L., Cleaver J.E.
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
Hum. Mutat. 12:103-113(1998)