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Hyperoxaluria type I
259900


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Hyperoxaluria type I

Clinical feature: 

Definition: The autosomal recessive oxalosis I is hyperoxaluria, oxalate nephrolithiasis and nephrocalcinosis due to mutations of the AGXT gene.

Systematic link table: 

Hyperoxaluria
Hyperoxaluria type I
AGXT
Hyperoxaluria type II
GRHPR

Literature: 

Purdue PE et al. (1990) Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.