Associated Papers
Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.
Guo W et al.
Journal of Advanced Research, 2026
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1
Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.
Lombardi S et al.
Rna Biology, 2020
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