• 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
Mayne L.V., Priestley A., James M.R., Burke J.F.
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
Troelstra C., van Gool A.J., de Wit J., Vermeulen W., Bootsma D., Hoeijmakers J.H.J.
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
Henning K.A., Li L., Iyer N., McDaniel L.D., Reagan M.S., Legerski R.J., Schultz R.A., Stefanini M., Lehmann A.R., Mayne L.V., Friedberg E.C.
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)