Article

Phenotypic expression and outcomes in patients with the Arg301Gln GLA variant in Anderson-Fabry disease

2023-12-06

Abstract excerpt

<title>Abstract</title><p><bold>Introduction</bold>: The Arg301Gln variant in the<italic>GLA</italic>gene has been poorly described in the literature. The few reports demonstrate different patterns of presentation of both classical and non-classical Anderson–Fabry (FD) disease, which develops later in life and with less organ damage. The<bold>aim</bold>of this study was to analyse the penetrance, clinical phenotyp...

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Literature Corpus work: 817c8f96-4d7f-524c-8eee-be318857ca98
DOI: 10.21203/rs.3.rs-3668933/v1

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