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Article

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.

Human molecular genetics - 1 Jul 2013

Miller Jake N, Chan Chun-Hung, Pearce David A

Abstract excerpt

Neuronal ceroid lipofuscinosis (NCL), commonly referred to as Batten disease, is a group of autosomal recessive neurodegenerative diseases of childhood characterized by seizures, blindness, motor and cognitive decline and premature death. Currently, there are over 400 known mutations in 14 different genes, leading to five overlapping clinical variants of NCL. A large portion of these mutations lead to premature...

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Source

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Identifiers

PMID: 23539563
DOI: 10.1093/hmg/ddt120
PMCID: PMC4439521

Genes

NCL
CLN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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