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Article

The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

Journal of inherited metabolic disease - 1 Jun 1999

Elpeleg O N, Shaag A

Abstract excerpt

Canavan disease is an infantile neurodegenerative disease that is caused by mutations in the gene encoding the enzyme aspartoacylase. It has mainly been reported in Jewish families. Genotyping of newly diagnosed patients is essential for the carrier identification and prenatal diagnosis. The sequence of the coding region was determined in 15 non-Jewish patients and 9 new mutations were identified: Y109X, P183H,...

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Identifiers

PMID: 10407784
DOI: 10.1023/a:1005512524957

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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