Fig. 1

Sequencing 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
Sequencing 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