O Heinonen-Kopra

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Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative storage disorder in children caused by mutations in the palmitoyl protein thioesterase gene (PPT1). We have investigated here four naturally occurring previously described PPT1 mutations and show that all cause severe effects on PPT1 enzyme activity in transiently transfected(More)
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