Aspartylglycosaminuria in a non-Finnish patient caused by a donor splice mutation in the glycoasparaginase gene.

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Article

Aspartylglycosaminuria in a non-Finnish patient caused by a donor splice mutation in the glycoasparaginase gene.

The Journal of biological chemistry - 15 Feb 1992

Mononen I, Heisterkamp N, Kaartinen V, Mononen T, Williams J C, Groffen J

Abstract excerpt

Aspartylglycosaminuria is a lysosomal storage disease caused by deficient activity of glycoasparaginase (EC 3.5.1.26), and it occurs with a high frequency among Finns. We have recently shown that the molecular defect in all Finnish aspartylglycosaminuria patients examined to date consists of two single base changes in the heavy chain of glycoasparaginase (Mononen, I., Heisterkamp, N., Kaartinen, V., Williams, J....

Topics

Amino Acid Sequence
Aspartylglucosylaminase
Base Sequence
Black People
Blotting, Southern
Cell Line
DNA
Finland
Glycopeptides
Humans
Lysosomes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mucolipidoses

Mutation

Oligodeoxyribonucleotides

Polymerase Chain Reaction

RNA Splicing

Source

Open in PubMed

Identifiers

PMID: 1737774

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1737774-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Aspartylglycosaminuria in a non-Finnish patient caused by a donor splice mutation in the glycoasparaginase gene.PMID 1737774Read ↗

Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.Semantic proximity Read ↗

Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.Semantic proximity Read ↗

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