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...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4855861/
https://ncbi.nlm.nih.gov/pubmed/27142856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0441-z
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