Article
Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2000
Rady P L, Penzien J M, Vargas T, Tyring S K, Matalon R
Abstract excerpt
Canavan disease is a severe, progressive autosomal recessive neurodegenerative leukodystrophy. Canavan disease occurs more frequently among Ashkenazi Jewish individuals with two predominant mutations in the aspartoacylase (ASPA) gene. The disease is less frequent in non-Jewish individuals and the mutations randomly reside on the ASPA gene, with one mutation seen more frequently among patients of European...
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