Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study

ConclusionCardiac involvement should be effectively detected in females before considering them asymptomatic mutation carriers.

Source: Molecular Genetics & Genomic Medicine - August 13, 2019 Category: Genetics & Stem Cells Authors: P äivi Pietilä‐Effati, Jukka T. Saarinen, Eliisa Löyttyniemi, Reijo Autio, Maria Saarenhovi, Maria K. Haanpää, Ilkka Kantola Tags: ORIGINAL ARTICLE Source Type: research