Fig. 4From: Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutationsCSA splicing alterations. Upper panel, schematic representation of the ERCC8 gene with aberrant skipping of exon 9 as a result of the c.843 + 1G > C mutation. Lower panel, sequencing of the mutant transcript (MT), which confirmed the aberrant splicing event compared to the wild type (WT); the stop codon in the mutant is indicated by an asteriskBack to article page