Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome

Autor: Harambat, Jérôme, Fargue, Sonia, Acquaviva, Cécile, Gagnadoux, Marie-France, Janssen, Françoise, Liutkus, Aurélia, Mourani, Chebl, Macher, Marie-Alice, Abramowicz, Daniel, Legendre, Christophe, Durrbach, Antoine, Tsimaratos, Michel, Nivet, Hubert, Girardin, Eric, Schott, Anne-Marie, Rolland, Marie-Odile, Cochat, Pierre *
Zdroj: In Kidney International 1 March 2010 77(5):443-449
Databáze: ScienceDirect