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Article

Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses.

Journal of inherited metabolic disease - 1 Jan 1996

Mole S E

Abstract excerpt

Major advances in the molecular genetic analysis of the neuronal ceroid lipofuscinoses (NCL) have recently been made: the genes for two major types have been identified and the chromosomal location for a third defined. CLN1, the gene for infantile NCL (Santavuori-Haltia disease) encodes palmitoyl protein thioesterase (PPT). Most patients (75% of disease chromosomes) have the same point mutation. In contrast,...

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Source

Identifiers

PMID: 8803767
DOI: 10.1007/BF01799253

Genes

CLN3
CLN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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