Associated Papers
AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.
Amoroso A et al.
Journal of the American Society of Nephrology : Jasn, 2001
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
Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.
Pirulli D et al.
Human Genetics, 1999
Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).
Tarn AC et al.
Journal of Inherited Metabolic Disease, 1997
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
Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase.
Danpure CJ
Biochimie, 1993
Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation.
Purdue PE et al.
Proceedings of the National Academy of Sciences of the United States of America, 1991
The molecular basis of alanine: glyoxylate aminotransferase mistargeting: the most common single cause of primary hyperoxaluria type 1.
Danpure CJ
Journal of Nephrology, 0
Experience in prenatal diagnosis of primary hyperoxaluria type 1.
Rumsby G
Journal of Nephrology, 0
Identification of new mutations in primary hyperoxaluria type 1 (PH1).
von Schnakenburg C et al.
Journal of Nephrology, 0
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