• Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Asp93Leufs*26 (Ex4del); Zygosity=Homozygous (PubMed=12655141).
  

DOI=10.11251/ojjscn1969.10.465
Toshiaki Hashimoto, Kyoichi Hiura, Yoshiko Kobayashi, Noboru Kawano, Tamio Takahashi, Shoichi Endo, Kuniaki Fukuda;
Cockayne's syndrome: report of two sisters and review of literature in Japan.
No To Hattatsu 10:465-472(1978)

PubMed=12655141; DOI=10.1266/ggs.78.93
Yan Ren, Masafumi Saijo, Yoshimichi Nakatsu, Hiroshi Nakai, Masaru Yamaizumi, Kiyoji Tanaka;
Three novel mutations responsible for Cockayne syndrome group A.
Genes Genet. Syst. 78:93-102(2003)

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)