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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Pubblicato in:Mol Genet Genomic Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2018
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Original Articles
Accesso online: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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