• 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
Ruth Miskin, Ruth Ben-Ishai;
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
James Edward Cleaver, Bauke Zelle, Nemat Hashem, Mohamed H. El-Hefnawi, James Lafayette German 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
Urs Kuhnlein, Siu Sing Tsang, Opal Lokken, Silvian Tong, Daniel Twa;
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
Hatsumi Nagasawa, Frederic Fletcher Little, Maureen J. Burke, Ellen F. McCone, Harris S. Targovnik, Gerald L. Chan, John Bertram Little;
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
Hatsumi Nagasawa, Maureen J. Burke, Frederic Fletcher Little, Ellen F. McCone, Gerald L. Chan, John Bertram Little;
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
Ichiro Satokata, Kiyoji Tanaka, Naoyuki Miura, Iwai Miyamoto, Yoshiaki Satoh, Seiji Kondo, Yoshio Okada;
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
Ichiro Satokata, Kiyoji Tanaka, Naoyuki Miura, Masashi Narita, Takashi Mimaki, Yoshiaki Satoh, Seiji Kondo, Yoshio Okada;
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
J. Christopher States, E.R. McDuffie, Scott P. Myrand, Mindy L. McDowell, James Edward Cleaver;
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)