Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ

Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinica Chimica Acta - Volume 481, June 2018, Pages 25-33

Lorenzo Ferri, Duccio Malesci, Antonella Fioravanti, Gaia Bagordo, Armando Filippini, Anna Ficcadenti, Raffaele Manna, Daniela Antuzzi, Elena Verrecchia, Ilaria Donati, Renzo Mignani, Catia Cavicchi, Renzo Guerrini, Amelia Morrone,