• Mutation; HGNC; HGNC:29304; UVSSA; Simple; p.Lys123Ter (c.367A>T); ClinVar=VCV000031569; Zygosity=Homozygous (PubMed=22466610).
  

PubMed=3922833; DOI=10.20772/cancersci1985.76.3_162
Yoshisada Fujiwara, Yoshiaki Satoh;
Assignment of two Japanese xeroderma pigmentosum patients to complementation group D and their characteristics.
Jpn. J. Cancer Res. 76:162-166(1985)

PubMed=3974603; DOI=10.1016/0167-8817(85)90040-9
Yoshisada Fujiwara, Yoshihiko Uehara, Masamitsu Ichihashi, Yoko Yamamoto, Kazue Nishioka;
Assignment of 2 patients with xeroderma pigmentosum to complementation group E.
Mutat. Res. 145:55-61(1985)

PubMed=4011712; DOI=10.1111/j.1751-1097.1985.tb03538.x
Yoshisada Fujiwara, Yoshihiko Uehara, Masamitsu Ichihashi, Kazue Nishioka;
Xeroderma pigmentosum complementation group F: more assignments and repair characteristics.
Photochem. Photobiol. 41:629-634(1985)

PubMed=3341805; DOI=10.1001/archderm.1988.01670020074021
Masamitsu Ichihashi, Keizo Yamamura, Takeaki Hiramoto, Yoshisada Fujiwara;
No apparent neurologic defect in a patient with xeroderma pigmentosum complementation group D.
Arch. Dermatol. 124:256-260(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=1376435; DOI=10.1016/0921-8777(92)90049-9
Scott Neal Keeney, Harrison Wein, Stuart M. Linn;
Biochemical heterogeneity in xeroderma pigmentosum complementation group E.
Mutat. Res. 273:49-56(1992)

PubMed=10771487; DOI=10.1046/j.1523-1747.2000.00952.x
Toshiki Itoh, Stuart M. Linn, Tomomichi Ono, Masaru Yamaizumi;
Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them.
J. Invest. Dermatol. 114:1022-1029(2000)

PubMed=22466610; DOI=10.1038/ng.2229
Yuka Nakazawa, Kensaku Sasaki, Norisato Mitsutake, Michiko Matsuse, Mayuko Shimada, Tiziana Nardo, Yoshito Takahashi, Kaname Ohyama, Kosei Ito, Hiroyuki Mishima, Masayo Nomura ...Show all 24 authors... , Akira Kinoshita, Shinji Ono, Katsuya Takenaka, Ritsuko Masuyama, Takashi Kudo, Hanoch Slor, Atsushi Utani, Satoshi Tateishi, Shunichi Yamashita, Miria Stefanini, Alan R. Lehmann, Koh-ichiro Yoshiura, Tomoo Ogi; Show fewer authors
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Nat. Genet. 44:586-592(2012)