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Article

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.

Genomics - 1 Mar 1992

Syvänen A C, Ikonen E, Manninen T, Bengtström M, Söderlund H, Aula P, Peltonen L

Abstract excerpt

Aspartylglucosaminuria (AGU) is a recessively inherited lysosomal disease caused by inadequate aspartylglucosaminidase (AGA) activity. The disease is prevalent in the genetically isolated Finnish population. We have used a new method, solid-phase minisequencing, to determine the frequency of two missense mutations in the AGA gene in this population. In samples from 70% of the Finnish AGU families, we found that...

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Source

Identifiers

PMID: 1559710
DOI: 10.1016/0888-7543(92)90452-x

Genes

AGA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.PMID 1559710Read ↗

Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.Semantic proximity Read ↗

Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.Semantic proximity Read ↗

Spectrum of mutations in aspartylglucosaminuria.Semantic proximity Read ↗

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

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.Semantic proximity Read ↗

Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay.Semantic proximity Read ↗

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

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

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.Semantic proximity Read ↗

Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis.Semantic proximity Read ↗

Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.Semantic proximity Read ↗

Aspartylglycosaminuria: biochemistry and molecular biology.Semantic proximity Read ↗

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