• Mutation; HGNC; HGNC:12814; XPA; Simple; p.Thr125Ilefs*15 (c.374delC); ClinVar=VCV000267186; Zygosity=Homozygous (PubMed=9671271; Coriell=GM02990).
  

PubMed=6947227; DOI=10.1073/pnas.78.10.6236; PMCID=PMC349013
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=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=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=6442144; DOI=10.1007/978-1-4684-4892-4_20
Nagasawa H., Little F.F., Burke M.J., McCone E.F., Targovnik H.S., Chan G.L., Little J.B.
Study of basal cell nevus syndrome fibroblasts after treatment with DNA-damaging agents.
Basic Life Sci. 29:775-785(1984)

PubMed=2897722; DOI=10.1002/tcm.1770080104
Nagasawa H., Burke M.J., Little F.F., McCone E.F., Chan G.L., Little J.B.
Multiple abnormalities in the ultraviolet light response of cultured fibroblasts derived from patients with the basal cell nevus syndrome.
Teratog. Carcinog. Mutagen. 8:25-33(1988)

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=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.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)