Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

✍ Scribed by V. Laugel; C. Dalloz; M. Durand; F. Sauvanaud; U. Kristensen; M.C. Vincent; L. Pasquier; S. Odent; V. Cormier-Daire; B. Gener; E.S. Tobias; J.L. Tolmie; D. Martin-Coignard; V. Drouin-Garraud; D. Heron; H. Journel; E. Raffo; J. Vigneron; S. Lyonnet; V. Murday; D. Gubser-Mercati; B. Funalot; L. Brueton; J. Sanchez del Pozo; E. Muñoz; A.R. Gennery; M. Salih; M. Noruzinia; K. Prescott; L. Ramos; Z. Stark; K. Fieggen; B. Chabrol; P. Sarda; P. Edery; A. Bloch-Zupan; H. Fawcett; D. Pham; J.M. Egly; A.R. Lehmann; A. Sarasin; H. Dollfus

• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 317 KB
• Volume: 31
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.21154

✦ Synopsis

Empty boxes indicate unavailable data. Patients are presented according to clinical severity. GenBank accession numbers NT_006713.15 and NM_000082.3 have been used as reference sequences for the CSA gene and the CSA cDNA respectively. Nucleotide numbering reflects cDNA numbering with 11 corresponding to the A of the ATG translation initiation codon. a Moderate (M) or severe (S). b Congenital (C) or postnatal (P). c Yes (Y), no (N), or suspected (S, when parents originated from the very same geographic area or ethnic group). d Age at death. m, months; y, years.