Article
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Journal of inherited metabolic disease - 1 Nov 2002
Zeng B J, Wang Z H, Ribeiro L A, Leone P, De Gasperi R, Kim S J, Raghavan S, Ong E, Pastores G M, Kolodny E H
Abstract excerpt
Canavan disease, an inherited leukodystrophy, is caused by mutations in the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish descent but has been diagnosed in many diverse ethnic groups. Two mutations comprise the majority of mutant alleles in Jewish patients, while mutations in the ASPA gene among non-Jewish patients are different and more diverse. In the present study, the ASPA...
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