Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study

BACKGROUND: The p.Asn215Ser or p.N215S GLA variant has been associated with late‐onset cardiac variant of Fabry disease. METHODS: To expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males) enrolled in the Fabry Registry (NCT00196742) and...

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Detalles Bibliográficos
Autores principales: Germain, Dominique P., Brand, Eva, Burlina, Alessandro, Cecchi, Franco, Garman, Scott C., Kempf, Judy, Laney, Dawn A., Linhart, Aleš, Maródi, László, Nicholls, Kathy, Ortiz, Alberto, Pieruzzi, Federico, Shankar, Suma P., Waldek, Stephen, Wanner, Christoph, Jovanovic, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081232/
https://www.ncbi.nlm.nih.gov/pubmed/29649853
http://dx.doi.org/10.1002/mgg3.389

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