Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families

BACKGROUND: The GLA c.337T > C (p.Phe113Leu) is a known pathogenic variant associated to late-onset Fabry disease phenotype with predominant cardiac manifestations. A founder effect was demonstrated in a large cohort in the Portuguese region of Guimarães. Herein we report an in-depth phenotype de...

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Detalles Bibliográficos
Autores principales: Cianci, Vittoria, Pascarella, Angelo, Manzo, Lucia, Gasparini, Sara, Marsico, Oreste, Mammì, Anna, Rao, Carmelo Massimiliano, Franzutti, Claudio, Aguglia, Umberto, Ferlazzo, Edoardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348951/
https://www.ncbi.nlm.nih.gov/pubmed/37097439
http://dx.doi.org/10.1007/s11011-023-01216-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348951/
https://www.ncbi.nlm.nih.gov/pubmed/37097439
http://dx.doi.org/10.1007/s11011-023-01216-4

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