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Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant
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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855861/ https://www.ncbi.nlm.nih.gov/pubmed/27142856 http://dx.doi.org/10.1186/s13023-016-0441-z |
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