Article
Fabry disease due to D313Y and novel GLA mutations.
BMJ open - 6 Oct 2017
Koulousios Konstantinos, Stylianou Konstantinos, Pateinakis Panagiotis, Zamanakou Maria, Loules Gedeon, Manou Eleni, Kyriklidou Parthena, Katsinas Christos, Ouzouni Alexandra, Kyriazis John, Speletas Matthaios, Germenis Anastasios E
Abstract excerpt
OBJECTIVES: Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in the literature. SETTING AND PARTICIPANTS: Twenty-five family members of nine unrelated patients with definite FD diagnosis, 10 clinically suspected cases and 18 members of their families were...
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