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Article

Ultrastructural and electrophysiological correlation of the genotypes of NCL.

Molecular genetics and metabolism - 1 Apr 1999

Williams R E, Boyd S, Lake B D

Abstract excerpt

Several genetically different, but clinically similar childhood forms of neuronal ceroid lipofuscinosis are now recognized. Accurate diagnosis is important so that appropriate genetic advice can be given, molecular analysis can be undertaken, and prenatal testing can be considered. A combined clinical, electrophysiological, and histological (light and electron microscopy) approach offers the most reliable means...

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Source

Identifiers

PMID: 10191136
DOI: 10.1006/mgme.1999.2807

Genes

NCL

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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