Article
Spectrum of mutations in aspartylglucosaminuria.
Proceedings of the National Academy of Sciences of the United States of America - 15 Dec 1991
Ikonen E, Aula P, Grön K, Tollersrud O, Halila R, Manninen T, Syvänen A C, Peltonen L
Abstract excerpt
Aspartylglucosaminuria (AGU) is an inherited lysosomal storage disorder caused by the deficiency of aspartylglucosaminidase. We have earlier reported a single missense mutation (Cys163----Ser) to be responsible for 98% of the AGU alleles in the isolated Finnish population, which contains about 90...
Topics
- Acetylglucosamine
- Adolescent
- Adult
- Alleles
- Aspartylglucosaminuria
- Aspartylglucosylaminase
- Base Sequence
- Cell Line
- Child
- Child, Preschool
- Chromosome Deletion
- Codon