Associated Papers
Detection of AGXT bgene mutations by denaturing high-performance liquid chromatography for diagnosis of hyperoxaluria type 1.
Pirulli D et al.
Clinical and Experimental Medicine, 2001
Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group.
Rinat C et al.
Journal of the American Society of Nephrology : Jasn, 1999
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
von Schnakenburg C et al.
Journal of Medical Genetics, 1997
Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.
Danpure CJ et al.
American Journal of Human Genetics, 1993
Identification of new mutations in primary hyperoxaluria type 1 (PH1).
von Schnakenburg C et al.
Journal of Nephrology, 0
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