Associated Papers
The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.
Moiseev S et al.
Genes, 2022
DNA methylation impact on Fabry disease.
Di Risi T et al.
Clinical Epigenetics, 2021
Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.
Hossain MA et al.
Molecular Genetics and Metabolism Reports, 2019
The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.
Hossain MA et al.
Molecular Genetics and Metabolism, 2017
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