Functional consequences and rescue poten
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Mariusz Walus; Elizabeth Kida; Adam A. Golabek
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Article
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2010
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John Wiley and Sons
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English
⚖ 344 KB
There are 35 missense mutations among 68 different mutations in the TPP1 gene, which encodes tripeptidyl peptidase I (TPPI), a lysosomal aminopeptidase associated with classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease). To elucidate the molecular mechanisms underlying TPPI deficien