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

PubMed=7513056; DOI=10.1016/0921-8777(94)90068-x
Toshiki Itoh, Tomomichi Ono, Masaru Yamaizumi;
A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations.
Mutat. Res. 314:233-248(1994)

PubMed=8763445; DOI=10.1046/j.1365-2133.1996.d01-922.x
T. Itoh, Masaru Yamaizumi, Masamitsu Ichihashi, M. Hiro-Oka, T. Matsui, Michio Matsuno, T. Ono;
Clinical characteristics of three patients with UVs syndrome, a photosensitive disorder with defective DNA repair.
Br. J. Dermatol. 134:1147-1150(1996)

PubMed=19329487; DOI=10.1073/pnas.0902113106; PMCID=PMC2667150
Tiziana Nardo, Roberta Oneda, Graciela Spivak, Bruno Vaz, Laurent Mortier, Pierre Thomas, Donata Orioli, Vincent Laugel, Anne Stary, Philip C. Hanawalt, Alain Sarasin, Miria Stefanini;
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
Proc. Natl. Acad. Sci. U.S.A. 106:6209-6214(2009)

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)