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Article

Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.

Human mutation - 1 Feb 2000

Waliany S, Das A K, Gaben A, Wisniewski K E, Hofmann S L

Abstract excerpt

Eight unrelated children with progressive neurological deterioration and granular osmiophilic deposits (GROD) due to an underlying palmitoyl-protein thioesterase deficiency were analyzed for mutations in the PPT1 gene. Three novel mutations (G118D, Q291X and F84del) were identified. The novel Q29...

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Source

Identifiers

PMID: 10649502
DOI: 10.1002/(SICI)1098-1004(200002)15:2<206::AID-HUMU14>3.0.CO;2-L

Genes

PPT1
NCL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10649502-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

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

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Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.PMID 10649502Read ↗

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