Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.

Abstract excerpt

Canavan disease is a neurodegenerative disease with autosomal recessive inheritance. Although this disease is prevalant among Ashkenazi Jewish population, several cases have been reported from all over the world. Canavan disease is caused by a genetic mutation in aspartoacylase gene. We have identified a novel mutation, a homozygous C432+1G>A mutation, in a 10-month-old boy who has a typical Canavan phenotype...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amidohydrolases
• Share to Infant
• Share to Mutation