Genetics and genomics

Fabry disease due to D313Y and novel GLA mutations

Konstantinos Koulousios, Konstantinos Stylianou, Panagiotis Pateinakis, Maria Zamanakou, Gedeon Loules, Eleni Manou, Parthena Kyriklidou, Christos Katsinas, Alexandra Ouzouni, John Kyriazis, Matthaios Speletas, Anastasios E Germenis

10.1136/bmjopen-2017-017098

October 6, 2017