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Article

Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene.

Human genetics - 1 Jul 1994

Danpure C J, Birdsey G M, Rumsby G, Lumb M J, Purdue P E, Allsop J

Abstract excerpt

The autosomal recessive disease primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate amino-transferase (AGT). This paper concerns the identification, characterization and clinical use of an unusual discretely polymorphic tandem repeat sequence in the fourth intron of the human AGT gene (gene locus designation AGXT). In a random Caucasian...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8034295
DOI: 10.1007/BF02272842

Genes

AGT
AGXT
GCA
GGN

Provenance

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.

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Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene.PMID 8034295Read ↗

Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).Semantic proximity Read ↗

The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.Semantic proximity Read ↗

The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.Semantic proximity Read ↗

Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.Semantic proximity Read ↗

A double mutation in AGXT gene in families with primary hyperoxaluria type 1.Semantic proximity Read ↗

An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.Semantic proximity Read ↗

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.Semantic proximity Read ↗

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Molecular insights into primary hyperoxaluria Type I pathogenesisSemantic proximity Read ↗

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Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.Semantic proximity Read ↗

Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.Semantic proximity Read ↗

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