Figure 3From: Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patientsLocalization of mutation identified in 12 Chinese NP-C patients draw on the schematic NPC1 protein model[29]. Red circle: novel exonic point mutations; Red rectangle: novel small insertion/deletions; Green square: reported exonic point mutations; Green rectangle: reported small insertion/deletions.Back to article page