Fig. 6
From: Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene
Sequence chromatograms of exons 13 and 19 of GNPTAB gene. A Wild type of exon 13. B Mutated sequence of exon 13 for patient nos. 1 and 2 (homozygous for p.R587X). C Heterozygous pattern for p.R587X mutation found in the parents. D Wild type of exon 19. E Mutated sequence of exon 19 for patient nos. 3–7 (homozygous for p.L1168QfsX5). F Heterozygous pattern for p.L1168QfsX5 mutation found in the parents. G Wild type of exon 19. H Mutated sequence of exon 19 for patient no. 8 (homozygous for p.T1163KfsX2)