The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study
鉴定出一种与安德森-法布里病经典表型相关的新型GLA基因致病变异:一项临床和分子研究
期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26020470
Giacalone, Irene; Ruzzi, Luigina; Anania, Monia; Cuonzo, Mariateresa; Marsana, Emanuela Maria; Mastrippolito, Silvia; Francofonte, Daniele; Bucco, Silvia; D'Errico, Annalisa; Longo, Maria Olimpia; Zizzo, Carmela; Iarlori, Luigia; Duro, Giovanni; Colomba, Paolo