Açık Akademik Arşiv Sistemi

The spectrum of neurological manifestations of Fabry disease in alarge Turkish family with c.[680G > A] p.[R227Q]mutation

The spectrum of neurological manifestations of Fabry disease in alarge Turkish family with c.[680G > A] p.[R227Q]mutation

Asli Aksoy Gundogdu; Zeynep Ozozen Ayas; Murat Alemdar; Kotan Dündar, Dilcan
URI: https://hdl.handle.net/20.500.12619/65795
Date: 2017

Abstract:

Conclusion: The clinical and genetic features of this large Turkish family with FD support an association between the neurological phenotype and the c.[680G> A] p.[R227Q] mutation. Since FD is treatable, it is recommended to perform enzymatic and genetic studies among family members.

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