• Mutation; HGNC; 12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Homozygous; Note=Also produces mis-splicing (PubMed=9671271; Coriell=GM01630).
  

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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=6947227; DOI=10.1073/pnas.78.10.6236
Miskin R., Ben-Ishai R.
Induction of plasminogen activator by UV light in normal and xeroderma pigmentosum fibroblasts.
Proc. Natl. Acad. Sci. U.S.A. 78:6236-6240(1981)

PubMed=1702221; DOI=10.1073/pnas.87.24.9908
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=2065254; DOI=10.1093/brain/114.3.1335
Robbins J.H., Brumback R.A., Mendiones M., Barrett S.F., Carl J.R., Cho S., Denckla M.B., Ganges M.B., Gerber L.H., Guthrie R.A., Meer J., Moshell A.N., Polinsky R.J., Ravin P.D., Sonies B.C., Tarone R.E.
Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form.
Brain 114:1335-1361(1991)

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

PubMed=15572672; DOI=10.1128/mcb.24.24.10670-10680.2004
Thorel F., Constantinou A., Dunand-Sauthier I., Nouspikel T., Lalle P., Raams A., Jaspers N.G.J., Vermeulen W., Shivji M.K.K., Wood R.D., Clarkson S.G.
Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage.
Mol. Cell. Biol. 24:10670-10680(2004)