Associated Papers
Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.
Zayoud K et al.
Genes, 2021
34946871 (PubMed )
Supplement: genes-12-01922-s001.zip › Supplementary_Table_S1_Zayoud_K.pdf
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.
Wang X et al.
Scientific Reports, 2017
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Calmels N et al.
Orphanet Journal of Rare Diseases, 2016
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V et al.
Human Mutation, 2010
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
Nardo T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Cockayne syndrome type A: novel mutations in eight typical patients.
Bertola DR et al.
Journal of Human Genetics, 2006
The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair.
Saijo M
Mechanisms of Ageing and Development, 0
Select a paper to view details