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

doi:10.1038/sj.ejhg.5200225

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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 in...

Topics

Amidohydrolases
Canavan Disease
Gene Frequency
Humans
Mutation
Polymorphism, Genetic
Reagent Kits, Diagnostic

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