Article
Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.
Human mutation - 1 Jan 1992
Ikonen E, Peltonen L
Abstract excerpt
This article provides a review of the mutations reported so far in the lysosomal storage disease aspartylglucosaminuria (AGU). The clinical symptoms, biochemical findings, and diagnostic possibilities of the disease are introduced. The prevalence and biological consequences of the found mutations are then described, as well as the availability of a new rapid DNA test suitable for carrier screening. This test will...
Topics
- Acetylglucosamine
- Amino Acid Sequence
- Aspartylglucosaminuria
- Aspartylglucosylaminase
- Base Sequence
- DNA
- DNA Mutational Analysis
- Finland
- Gene Frequency
- Genetic Carrier Screening
- Humans
- Lysosomal Storage Diseases