Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits

Hannah M. Mitchison, Sandra L. Hofmann, Carlos H R Becerra, Patricia B. Munroe, Brian D. Lake, Yanick J. Crow, John B P Stephenson, Ruth E. Williams, Irene L. Hofman, Peter E M Taschner, Jean Jacques Martin, Michel Philippart, Eva Andermann, Frederick Andermann, Sara E. Mole, R. Mark Gardiner, Angela M. O'Rawe