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. 2001 May 1;68(6):1373–1385. doi: 10.1086/320606

Figure 2.

Figure  2

Western blot of NPC1 protein in cultured fibroblasts from control subjects, 12 patients with NPC1, and 1 patient with NPC2. A C-terminal affinity-purified polyclonal antibody was used. Cells from a patient with a 845delT frameshift mutation served as a negative control. Eight patients with NPC1 had a homozygous missense mutation (lanes with a single label), and three were compound heterozygotes (lanes with a dual label). The NPC2 cell line carried a homozygous E20X mutation of the HE1 gene.