Article
Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay.
Clinical chemistry - 1 Jan 1995
Delahunty C M, Ankener W, Brainerd S, Nickerson D A, Mononen I T
Abstract excerpt
Aspartylglycosaminuria (AGU) is a recessively inherited lysosomal storage disease that occurs with much higher frequency in Finland than elsewhere. AGU is caused by a deficiency in glycosylasparaginase (GA), which results in the accumulation of glycoasparagines in lysosomes. In the Finnish population, a single nucleotide change in the gene encoding GA is responsible for the disease. We have used the...
Topics
- Acetylglucosamine
- Alleles
- Aspartylglucosaminuria
- Base Sequence
- DNA Ligases
- Finland
- Heterozygote
- Homozygote
- Humans
- Lysosomal Storage Diseases
- Molecular Sequence Data
- Mutation