Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.

doi:10.1038/ng1093-118

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Article

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.

Nature genetics - 1 Oct 1993

Kaul R, Gao G P, Balamurugan K, Matalon R

Abstract excerpt

Canavan disease, an autosomal recessive leukodystrophy, is caused by deficiency of aspartoacylase and accumulation of N-acetylaspartic acid in brain. We have cloned the human aspartoacylase (ASP) cDNA spanning 1,435 basepairs, and show that the isolated cDNA expresses aspartoacylase activity in b...

Topics

Amidohydrolases
Amino Acid Sequence
Animals
Base Sequence
Canavan Disease
Cattle
DNA, Complementary
Humans
Molecular Sequence Data
Mutation
Sequence Alignment

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