• Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Ser429Lysfs*7 (c.1280dupT); ClinVar=VCV000190146; Zygosity=Homozygous (PubMed=9443879).
  

PubMed=8834235; DOI=10.1007/BF02267059
Miria Stefanini, Heather Fawcett, Elena Botta, Tiziana Nardo, Alan R. Lehmann;
Genetic analysis of twenty-two patients with Cockayne syndrome.
Hum. Genet. 97:418-423(1996)

PubMed=9443879; DOI=10.1086/301686; PMCID=PMC1376810
Donna L. Mallery, Bianca Tanganelli, Stefano Colella, Herdis Steingrimsdottir, Alain J. van Gool, Christine Troelstra, Miria Stefanini, Alan R. Lehmann;
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Am. J. Hum. Genet. 62:77-85(1998)

PubMed=19179371; DOI=10.1093/nar/gkp023; PMCID=PMC2651789
Siripan Limsirichaikul, Atsuko Niimi, Heather Fawcett, Alan R. Lehmann, Shunichi Yamashita, Tomoo Ogi;
A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU).
Nucleic Acids Res. 37:e31.1-e31.10(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)