Fig. 4
From: Comparative evaluation of α-galactosidase A infusions for treatment of Fabry disease
Diagram of the mutations in α-galactosidase A found in Fabry disease families. Various types of mutations occur, but none appear to be recurrent. The majority of common mutations result from founder effects in isolated populations. Many of the various mutations lead to an absence of enzyme protein being produced, but residual activity can occur in some of the “milder” variants. IVS, intervening sequence.
