Fabry disease due to D313Y and novel GLA mutations

Koulousios, K; Stylianou, K; Pateinakis, P; Zamanakou, M; Loules, G; Manou, E; Kyriklidou, P; Katsinas, C; Ouzouni, A; Kyriazis, J; Speletas, M; Germenis, AE

Koulousios, K (reprint author), Univ Thessaly, Sch Med, Dept Immunol & Histocompatibil, Larisa, Greece.

BMJ OPEN, 2017; 7 (10):

Abstract

Objectives Our aim is to report four novel alpha-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of t......

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