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Real-time expression profile of RECQL4 isoforms. (a) RECQL4 partially skipped exon 14 and (b) RECQL4 full-length exon 14 mRNA expression in case II-1, her healthy parents and an RTS patient9 with different RECQL4 mutations compared with five controls (CTRL). Samples were run in triplicate and data are expressed as mean±SD. I-1, father; I-2, mother; II-1, index case; RTS, previously described RTS patient.
