Article
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
Orphanet journal of rare diseases - 4 May 2016
Lenders Malte, Weidemann Frank, Kurschat Christine, Canaan-Kühl Sima, Duning Thomas, Stypmann Jörg, Schmitz Boris, Reiermann Stefanie, Krämer Johannes, Blaschke Daniela, Wanner Christoph, Brand Stefan-Martin, Brand Eva
Abstract excerpt
BACKGROUND: 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. METHODS: To determine the clinical impact of the alpha-Galactosidase A (GLA) p.A143T/ c.427G > A variation, we retrospectively analyzed 25 p.A143T patients in comparison to 58 FD patients with other missense mutations. RESULTS:...
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