Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study.
Päivi Pietilä-EffatiJukka T SaarinenEliisa LöyttyniemiReijo AutioMaria SaarenhoviMaria K HaanpääIlkka KantolaPublished in: Molecular genetics & genomic medicine (2019)
Cardiac involvement should be effectively detected in females before considering them asymptomatic mutation carriers.