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

Verot L, Chikh K, Freydi?(r)re E, Honor?(c) R, Vanier MT, Millat G. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. Clin Genet. 2007 Apr;71(4):320-30.

PubMed ID: 
17470133