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

L. Ferri, D. Malesci, A. Fioravanti, G. Bagordo, A. Filippini, A. Ficcadenti, R. Manna, D. Antuzzi, E. Verrecchia, I. Donati, R. Mignani, C. Cavicchi, R. Guerrini, A. Morrone

Research output: Contribution to journalArticle

5 Citations (Scopus)
Original languageEnglish
Pages (from-to)25-33
Number of pages9
JournalClinica Chimica Acta
Volume481
DOIs
Publication statusPublished - 2018

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