AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.

Autor: Amoroso A; Section of Genetics, Department of Reproductive and Developmental Science, University of Trieste, Trieste, Italy.; Medical Genetics Service, IRCCS Burlo Garofolo, Trieste, Italy., Pirulli D; Section of Genetics, Department of Reproductive and Developmental Science, University of Trieste, Trieste, Italy., Florian F; Department of Biology, University of Trieste, Trieste, Italy., Puzzer D; Medical Genetics Service, IRCCS Burlo Garofolo, Trieste, Italy., Boniotto M; Section of Genetics, Department of Reproductive and Developmental Science, University of Trieste, Trieste, Italy., Crovella S; Section of Genetics, Department of Reproductive and Developmental Science, University of Trieste, Trieste, Italy., Zezlina S; Medical Genetics Service, IRCCS Burlo Garofolo, Trieste, Italy., Spanò A; Medical Genetics Service, IRCCS Burlo Garofolo, Trieste, Italy., Mazzola G; Transplant Immunology Service, Ospedale S. Giovanni Battista di Torino, Torino, Italy., Savoldi S; Division of Nephrology and Dialysis, Azienda Ospedaliera Triestina, Trieste, Italy., Ferrettini C; Renal Stones Center, Ospedale Mauriziano Umberto I, Torino, Italy., Berutti S; Renal Stones Center, Ospedale Mauriziano Umberto I, Torino, Italy., Petrarulo M; Renal Stones Center, Ospedale Mauriziano Umberto I, Torino, Italy., Marangella M; Renal Stones Center, Ospedale Mauriziano Umberto I, Torino, Italy.

Publikováno v: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2001 Oct; Vol. 12 (10), pp. 2072-2079.