• Mutation; HGNC; HGNC:3438; ERCC6; Simple; c.2599-26A>G; ClinVar=VCV000190162; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e; DOI=10.1086/302394).
  
• Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Lys1203Argfs*33 (c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA) (3686ins26); ClinVar=VCV000190168; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e; DOI=10.1086/302394).
  

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)

DOI=10.1086/302394
Donna L. Mallery, Bianca Tanganelli, Stefano Colella, Herdis Steingrimsdottir, Alain J. van Gool, Christine Troelstra, Miria Stefanini, Alan R. Lehmann;
Erratum to: Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Am. J. Hum. Genet. 64:1491-1491(1999)

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