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Genomic DNA deletion analysis in patient 12. (a) PCR analysis using primers located in introns 21 and 22. M: molecular weight marker. In control (C) a band of 1433 bp corresponding to the full-length product is detected. In patient 12 (P12), a smaller band of 587 bp is observed. The non-deleted allele is not amplified in these PCR conditions. (b) Sequencing of the PCR deletion product (P12). The 846-bp deletion is located between the breakpoints c.3482+208 and c.3531.
