Article
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.
European journal of human genetics : EJHG - 1 Jul 2000
Sistermans E A, de Coo R F, van Beerendonk H M, Poll-The B T, Kleijer W J, van Oost B A
Abstract excerpt
Canavan disease is a severe progressive autosomal recessive disorder, which is characterised by spongy degeneration of the brain. The disease is caused by mutations in the aspartoacylase gene. Two different mutations were reported on 98% of the alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent. In non-Jewish patients of European origin, one mutation (914C > A) is found in...
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