• Mutation; HGNC; 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
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=7163956; DOI=10.1007/BF01543020
James Edward Cleaver;
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
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=6492896; DOI=10.1016/0047-6374(84)90044-7
James Edward Cleaver;
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
Cada M. Wood, Terry L. Timme, Myra McEarl Hurt, Bill R. Brinkley, David Hamilton Ledbetter, Robb E. Moses;
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
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)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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
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=8595429; DOI=10.1093/hmg/4.10.1993
Ichiro Satokata, Makoto Uchiyama, Kiyoji Tanaka;
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
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)