Associated Papers
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Savostyanov K et al.
Genes, 2023
Recurrent acute coronary syndrome, polymorphic premature ventricular complexes and a son with a (mis)diagnosis of multiple sclerosis.
Nestele J et al.
Acta Cardiologica, 2020
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P et al.
Orphanet Journal of Rare Diseases, 2020
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X et al.
Plos One, 2016
New mutations in the GLA gene in Brazilian families with Fabry disease.
Turaça LT et al.
Journal of Human Genetics, 2012
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