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Article

Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.

American journal of nephrology - 1 Jan 2000

Coulter-Mackie Marion B

Abstract excerpt

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of peroxisomal alanine:glyoxylate aminotransferase (AGT). In about one third of patients, enzymatically active AGT is synthesized but is mistargeted to mitochondria. There are more than 50 mutations identified in the gene for AGT. Four mutations, G170R, 33_34insC, F152I and I244T account for more than 50% of PH1 alleles. The question arose...

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Source

Identifiers

PMID: 15961945
DOI: 10.1159/000086356

Genes

AGT

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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