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Article

A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing.

European journal of human genetics : EJHG - 1 Jan 2000

Propheta O, Magal N, Shohat M, Eyal N, Navot N, Horowitz M

Abstract excerpt

We found normal individuals whose aspartoacylase gene Y231X mutation site consistently gave no signal in a primer extension assay. We determined the nucleotide sequence of the relevant region of the gene in those individuals, and found a new allele with a thymidine residue at the mutation site instead of a cytidine. Since both TAC and TAT code for tyrosine, this sequence polymorphism has no effect on the amino...

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Source

Identifiers

PMID: 9887384
DOI: 10.1038/sj.ejhg.5200225

Genes

ASPA
TAT

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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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A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing.PMID 9887384Read ↗

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