• Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg77Ter (c.229C>T) (C308T); ClinVar=VCV000001708; Zygosity=Homozygous (PubMed=15486090).
  

PubMed=7264357; DOI=10.1111/1523-1747.ep12482447
Yoshisada Fujiwara, Masamitsu Ichihashi, Yoshio Kano, Kaoru Goto, Kenji Shimizu;
A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.
J. Invest. Dermatol. 77:256-263(1981)

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=15486090; DOI=10.1073/pnas.0404587101; PMCID=PMC524447
Katsuyoshi Horibata, Yuka Iwamoto, Isao Kuraoka, Nicolaas G.J. Jaspers, Akihiro Kurimasa, Mitsuo Oshimura, Masamitsu Ichihashi, Kiyoji Tanaka;
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.
Proc. Natl. Acad. Sci. U.S.A. 101:15410-15415(2004)

PubMed=21143350; DOI=10.1111/j.1365-2443.2010.01467.x
Katsuyoshi Horibata, Masafumi Saijo, Mui N. Bay, Li Lan, Isao Kuraoka, Philip J. Brooks, Masamitsu Honma, Takehiko Nohmi, Akira Yasui, Kiyoji Tanaka;
Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.
Genes Cells 16:101-114(2011)