Hyperoxaluria type I 259900
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Clinical feature:
Definition: The autosomal recessive oxalosis I is hyperoxaluria, oxalate nephrolithiasis and nephrocalcinosis due to mutations of the AGXT gene.
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Literature:
Purdue PE et al. (1990) Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.