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Schematic overview of LARGE exons 8–11 of wild-type sequence (a) and patient sequence (b), showing the exons depicted by black boxes and the MLPA probes depicted by black bars. MLPA analysis revealed deletion of four MLPA probes (IN8-2, EX9, EX10, and IN10). Sequence analysis of the breakpoint region in the patient revealed the exact position of the 63.1 kb deletion (c)
