• Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg735Ter (c.2203C>T) (C2282T); ClinVar=VCV000001701; Zygosity=Homozygous (DOI=10.21954/ou.ro.0000e27e; PubMed=9443879).
  

PubMed=8834235; DOI=10.1007/BF02267059
Miria Stefanini, Heather Fawcett, Elena Botta, Tiziana Nardo, Alan Robert 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 Robert Lehmann;
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Am. J. Hum. Genet. 62:77-85(1998)

DOI=10.21954/ou.ro.0000e27e
Donna L. Mallery;
The identification and analysis of mutation in the Cockayne syndrome B gene.
Thesis PhD (1999); The Open University; Milton Keynes; United Kingdom

PubMed=10767341; DOI=10.1093/hmg/9.8.1171
Stefano Colella, Tiziana Nardo, Elena Botta, Alan Robert Lehmann, Miria Stefanini;
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum.
Hum. Mol. Genet. 9:1171-1175(2000)