• Mutation; HGNC; HGNC:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=1702221).
  

PubMed=832273
Hiraku Takebe, Yoshiharu Miki, Takehito Kozuka, Jun-ichi Furuyama, Kiyoji Tanaka, Masao S. Sasaki, Yoshisada Fujiwara, Hiroshi Akiba;
DNA repair characteristics and skin cancers of xeroderma pigmentosum patients in Japan.
Cancer Res. 37:490-495(1977)

PubMed=273925; DOI=10.1073/pnas.75.4.1984; PMCID=PMC392467
Alan D. Andrews, Susanna F. Barrett, Jay H. Robbins;
Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation.
Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978)

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)