The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.

Article

The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.

American journal of human genetics - 1 Sept 1995

Shaag A, Anikster Y, Christensen E, Glustein J Z, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot M T

Abstract excerpt

Canavan disease is an infantile neurodegenerative disease that is due to aspartoacylase deficiency. The disease has been reported mainly in Ashkenazi Jews but also occurs in other ethnic groups. Determination of enzymatic activity for carrier detection and prenatal diagnosis is considered unrelia...

Topics

Alleles
Base Sequence
Canavan Disease
DNA
Europe
Female
Humans
Infant
Infant, Newborn
Jews
Male
Molecular Sequence Data
Mutation

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