Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.

The late-infantile form of neuronal ceroid lipofuscinosis (LINCL) is a progressive and ultimately fatal neurodegenerative disease of childhood. The defective gene in this hereditary disorder, CLN2, encodes a recently identified lysosomal pepstatin-insensitive acid protease. To better understand the...

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Main Authors: Sleat, D E, Gin, R M, Sohar, I, Wisniewski, K, Sklower-Brooks, S, Pullarkat, R K, Palmer, D N, Lerner, T J, Boustany, R M, Uldall, P, Siakotos, A N, Donnelly, R J, Lobel, P
Format: Artigo
Language:Inglês
Published: 1999
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377895/
https://ncbi.nlm.nih.gov/pubmed/10330339
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