Phenotypic characteristics of the p.Asn215Ser (p.N215S) <i>G<scp>LA</scp></i> mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study

Abstract

p.N215S is a disease-causing mutation with severe clinical manifestations found primarily in the heart. Cardiac involvement may become as severe as in classic Fabry patients, especially in males.