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Article

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

Human mutation - 1 Jul 2003

Sharp Julie D, Wheeler Ruth B, Parker Keith A, Gardiner R Mark, Williams Ruth E, Mole Sara E

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases of childhood. CLN6, the gene mutated in variant late infantile NCL (vLINCL), was recently cloned. We report the identification of eight further mutations in CLN6 making a total of 18 reported m...

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Source

Identifiers

PMID: 12815591
DOI: 10.1002/humu.10227

Genes

CLN6
NCL
CLN3
CLN5
CLN8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12815591-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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