Fig. 1From: Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literatureSequencing of the NPC genes. a Chromatogram showing homozygous nonsense mutation c.141C > A (p.C47X) in exon 2 of NPC2. b Homozygous intronic c.82 + 2 T > C transition mutation detection in intron 1 of NPC2 Back to article page