• Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Gln184Ter (c.550C>T) (C629T); ClinVar=VCV001459151; Zygosity=Heterozygous (PubMed=9443879).
  
• Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg670Trp (c.2008C>T) (C2087T); ClinVar=VCV000190158; Zygosity=Heterozygous (PubMed=9443879).
  

PubMed=8823375; DOI=10.1111/1523-1747.ep12584287
Shin-ichi Moriwaki, Miria Stefanini, Alan R. Lehmann, Jan Hendrik Jozef Hoeijmakers, Jay H. Robbins, Isabelle Rapin, Elena Botta, Bianca Tanganelli, Wim Vermeulen, Bernard C. Broughton, Kenneth H. Kraemer;
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells.
J. Invest. Dermatol. 107:647-653(1996)

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)