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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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2018
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6081232/
https://ncbi.nlm.nih.gov/pubmed/29649853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.389
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