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Phenotypic Analysis of p.N215S GLA Mutation by balounova is a document available to read on EtoBox.
This study investigates the phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in patients with Fabry disease, analyzing data from 125 patients (66 females, 59 males) enrolled in the Fabry Registry. Results indicate that cardiac manifestations are predominant, with severe clinical events primarily affecting males, while renal impairment is less common in females. The findings suggest that the p.N215S mutation leads to significant cardiac involvement, comparable to classic Fabry disease, pa
- Author
- balounova
- Language
- EN