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

12 Apr 2018

Abstract excerpt

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 compared it with data from 401 patients (237 females, 164 males) harboring mutations associated with classic Fabry...

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PMID: 29649853
DOI: 10.1002/mgg3.389

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