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Article

Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations.

Human mutation - 1 Aug 2001

Lin L, Lobel P

Abstract excerpt

Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal hereditary childhood disease. The gene underlying LINCL, CLN2, encodes a lysosomal enzyme, tripeptidyl peptidase I (TPP-I), deficiency in which leads to lysosomal accumulation of autofluorescent materials accompanied by severe neuronal atrophy. Mutational analysis was conducted to characterize different CLN2 alleles. Two probands of Romany origin...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11462245
DOI: 10.1002/humu.1170

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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