Article
AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.
Journal of the American Society of Nephrology : JASN - 1 Oct 2001
Amoroso Antonio, Pirulli Doroti, Florian Fiorella, Puzzer Daniela, Boniotto Michele, Crovella Sergio, Zezlina Silvia, Spanò Andrea, Mazzola Gina, Savoldi Silvana, Ferrettini Cristina, Berutti Silvia, Petrarulo Michele, Marangella Martino
Abstract excerpt
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder that is caused by a deficiency of alanine: glyoxylate aminotransferase (AGT), which is encoded by a single copy gene (AGXT). Molecular diagnosis was used in conjunction with clinical, biochemical, and enzymological data to evaluate genotype-phenotype correlation. Twenty-three unrelated, Italian PH1 patients were studied, 20 of which were...
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