Figure 2From: Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick diseaseDistribution of SMPD1 gene mutations from Chinese NPD-A/B patients. A total of 24 different mutations had been identified in this Chinese patient cohort. The eight recurrent mutations are in red, and the presumed severe mutations are marked by blue pentagram.Back to article page