Fig. 1.

a Distribution of GNPTAB gene mutations in 21 exons from 36 Eastern Chinese patients with ML II/III. In total, 37 different mutations were identified in the GNPTAB gene. The 15 previously reported mutations are in black, and the 22 novel mutations are marked in red. b Distribution of 10 missense mutations in the α/β-subunit precursor. The two previously reported mutations are in black, and the eight novel mutations are marked in red