Cockayne syndrome in an Iranian pedigree with a homozygous missense variant in the ERCC6 gene
Author:
Funder
Zanjan University of Medical Sciences
Publisher
Elsevier BV
Subject
Genetics
Reference47 articles.
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2. The conserved cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells;Bailey;DNA Repair,2012
3. Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation;Batenburg;EMBO J.,2015
4. Carrier testing for severe childhood recessive diseases by next-generation sequencing;Bell;Sci. Transl. Med.,2011
5. A possible cranio-oro-facial phenotype in cockayne syndrome;Bloch-Zupan;Orphanet J. Rare Dis.,2013
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