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XP1NE;near normal post UV unscheduled DNA synthesis;no neoplasias;donor subject is a compound heterozygote for several mutations in the ERCC2 gene: one allele carries a G-to-A substitution at nucleotide 217 (217G>A) which results in a change of Gly-47 to Arg GLY47ARG (G47R);a second allele carries a C-to-G transversion at nucleotide position 1411 (1411C>G) which results in a change of Leu-461 to Val Leu461Val (L461V);as well as a splicing mutation resulting in the deletion of 45 bases (2224_2268) in the cDNA and the loss of amino acids 716_730 from the protein (DEL 716_730).
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