Associated Papers
Unambiguous Interpretation of the Pathogenicity of the GLA c.547+3A>G Variant Causing Fabry Disease.
Urtis M et al.
Genes, 2024
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E et al.
Clinical and Experimental Nephrology, 2023
Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.
Dai X et al.
Orphanet Journal of Rare Diseases, 2022
Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.
Maruyama H et al.
Current Issues in Molecular Biology, 2021
Select a paper to view details