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.
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R. Mignani | A. Ficcadenti | R. Manna | R. Guerrini | A. Morrone | A. Fioravanti | E. Verrecchia | C. Cavicchi | L. Ferri | Ilaria Donati | A. Filippini | D. Antuzzi | D. Malesci | Gaia Bagordo