• 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
Stefanini M., Fawcett H., Botta E., Nardo T., Lehmann A.R.
Genetic analysis of twenty-two patients with Cockayne syndrome.
Hum. Genet. 97:418-423(1996)

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.
Am. J. Hum. Genet. 62:77-85(1998)

DOI=10.1086/302394
Mallery D.L., Tanganelli B., Colella S., Steingrimsdottir H., van Gool A.J., Troelstra C., Stefanini M., Lehmann A.R.
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
Mallery D.L.
The identification and analysis of mutation in the Cockayne syndrome B gene.
Thesis PhD (1999); The Open University; Milton Keynes; United Kingdom