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

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PubMed=9443879; DOI=10.1086/301686; PMCID=PMC1376810
Mallery D.L., Tanganelli B., Colella S., Steingrimsdottir H., van Gool A.J., Troelstra C., Stefanini M., Lehmann A.R.
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
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PubMed=19179371; DOI=10.1093/nar/gkp023; PMCID=PMC2651789
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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
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)