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46;XX;increased UV light-induced sister chromatid exchanges and cell killing;patient is CS1AN;complementation group B;donor subject is a compound heterozygote: one allele has an A>T transversion at nucleotide 1088 in exon 5 of the ERCC6 gene (1088A>T) resulting in premature truncation of the protein Lys377Ter (K377X);the second allele has a C>T transition at nucleotide 2648 in exon 15 (2648C>T) triggering an erroneous splice event resulting in a frameshift Arg857Ter (R857X)
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