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- 2016
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variantDOI: 10.1186/s13023-016-0441-z Keywords: Fabry disease, Lyso-Gb3, Variant of unknown significance, Late-onset, GLA mutation, Stroke, Genotype Abstract: Fabry disease (FD) is an X-linked multisystemic disorder with a heterogeneous phenotype. Especially atypical or late-onset type 2 phenotypes present a therapeutical dilemma
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