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

H Mitchison, S Hofmann, C Becerra, P Munroe, B Lake, YJ Crow, J Stephenson, R Williams, I Hofman, P Taschner, J Martin, M Philippart, E Andermann, F Andermann, S Mole, R Gardiner, A O'Rawe

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    Biochemistry, Genetics and Molecular Biology