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Multiplex ligation-dependent probe amplification (MLPA) method shows the duplication (ratio~1.5) in LDLR exons 13–15 in patient H41-exon numbers were shown above as “LDLR-number of exons” (the LDLR exon numbering uses the RefSeq transcript NM_000527.4). The reference probes were included for normalized probe-signal ratio. The arbitrary border (upper and lower) was placed ±0.3 from the reference sample median of probes.
