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. 2016 Feb 14;4(3):303–311. doi: 10.1002/mgg3.205

Figure 1.

Figure 1

Chromatograms of mutations in the ATP6V0A44 and ATP6V1B1 genes detected by direct sequencing and QMPSF. For the QMPSF, each peak represents one analyzed exon and the HMBS internal control. Control samples are shown in red and patients' samples in blue. Proband has QMPSF half doses for exons 18 to 21.