Identification and characterization of C
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Morwenna Y. Porter; Mark Turmaine; Sara E. Mole
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Article
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2005
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John Wiley and Sons
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English
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## Abstract Infantile neuronal ceroid lipofuscinosis (INCL; Batten disease) is a severe neurodegenerative disorder of childhood characterized by the accumulation of autofluorescent storage material in lysosomes. It is caused by mutation of the __CLN1/PPT1__ gene, which encodes the lysosomal enzyme