• 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
Itoh T., Ono T., Yamaizumi M.
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
Itoh T., Yamaizumi M., Ichihashi M., Hiro-Oka M., Matsui T., Matsuno M., Ono T.
Clinical characteristics of three patients with UVs syndrome, a photosensitive disorder with defective DNA repair.
Br. J. Dermatol. 134:1147-1150(1996)

PubMed=22466610; DOI=10.1038/ng.2229
Nakazawa Y., Sasaki K., Mitsutake N., Matsuse M., Shimada M., Nardo T., Takahashi Y., Ohyama K., Ito K., Mishima H., Nomura M., Kinoshita A., Ono S., Takenaka K., Masuyama R., Kudo T., Slor H., Utani A., Tateishi S., Yamashita S., Stefanini M., Lehmann A.R., Yoshiura K.-i., Ogi T.
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)