Associated Papers
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Yao F et al.
Human Genomics, 2024
Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis.
Linares D et al.
Molecular Genetics and Metabolism, 2023
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
Shimotori M et al.
Human Mutation, 2008
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