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Πλοήγηση ανά Θέμα "d313y gene"

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    • 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 A.E. (2017)
      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 ...