Niemann–Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2

Reference

Verot, L, et al. “Niemann–Pick C Disease: Functional Characterization of Three NPC2 Mutations and Clinical and Molecular Update on Patients With NPC2”. Clinical Genetics, vol. 71, no. 4, Mar. 2007, pp. 320–330, https://doi.org/10.1111/j.1399-0004.2007.00782.x.

PubMed Reference Number (PMID)

17470133