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Mutations in the XPG gene of patient XPCS1LV. (A) Sequence of wild-type (top 4 rows) and XPCS1LV (bottom 4 rows) RT-PCR products showing the single nucleotide deletion within the AAA triplet at nucleotides 2170–2172. (B) Slot-blot hybridization of PCR products with wild-type (WT) or mutation-specific (ΔA) oligonucleotide probes. The wild-type sequence is present in genomic DNA from XPCS1LV, but not in pre-mRNA or mRNA. cDNA clones WT and ΔA are included as controls.
