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. 2014 Feb 11;2(3):217–228. doi: 10.1002/mgg3.61

Figure 1.

Figure 1

Schematic drawing of the CTSC gene, indicating the positions of mutations leading to PLS, HMS, and AP1. Identical mutations can lead to different diseases. The involvement of mutations in specific diseases is indicated as follows: #, PLS and HMS; *, PLS and AP1; †, HMS; ‡, common missense variants reported as causative for PLS.