• Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Lys337Ter (c.1009A>T) (A1088T); ClinVar=VCV000550722; Zygosity=Hemizygous (PubMed=1339317).
  

PubMed=3002824; DOI=10.1016/0014-4827(86)90356-3
Lynne V. Mayne, Anne Priestley, Michael R. James, Julian F. Burke;
Efficient immortalization and morphological transformation of human fibroblasts by transfection with SV40 DNA linked to a dominant marker.
Exp. Cell Res. 162:530-538(1986)

PubMed=1339317; DOI=10.1016/0092-8674(92)90390-x
Christine Troelstra, Alain J. van Gool, Jan de Wit, Wim Vermeulen, Dirk Bootsma, Jan Hendrik Jozef Hoeijmakers;
ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes.
Cell 71:939-953(1992)

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)