• Mutation; HGNC; HGNC:3439; ERCC8; Unexplicit; Mutation in splice donor site of intron 9; Zygosity=Homozygous (PubMed=7664335).
  

PubMed=7664335; DOI=10.1016/0092-8674(95)90028-4
Karla A. Henning, Lei Li, Narayan Iyer, Lisa D. McDaniel, Michael S. Reagan, Randy J. Legerski, Roger A. Schultz, Miria Stefanini, Alan R. Lehmann, Lynne V. Mayne, Errol Clive Friedberg;
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.
Cell 82:555-564(1995)

PubMed=7825573; PMCID=PMC1801309
Bernard C. Broughton, Annette F. Thompson, Susan A. Harcourt, Wim Vermeulen, Jan Hendrik Jozef Hoeijmakers, Elena Botta, Miria Stefanini, Mary D. King, Christine A. Weber, Jane Cole, Colin Francis Arlett, Alan R. Lehmann;
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
Am. J. Hum. Genet. 56:167-174(1995)

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)