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Article

Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma

12 Sept 2003

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 14680977
DOI: 10.1016/s1096-7192(03)00136-7

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Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasmaPMID 14680977Read ↗

Fabry Disease: Thirty-Five Mutations in the α-Galactosidase A Gene in Patients with Classic and Variant PhenotypesSemantic proximity Read ↗

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.Semantic proximity Read ↗

D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis.Semantic proximity Read ↗

Is the alpha-galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review.Semantic proximity Read ↗

?-Galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteinsSemantic proximity Read ↗

Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease.Semantic proximity Read ↗

Galactose Stabilizes Various Missense Mutants of α-Galactosidase in Fabry DiseaseSemantic proximity Read ↗

Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease.Semantic proximity Read ↗

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.Semantic proximity Read ↗

Novel functional mutations of the galactosidase alpha (GLA) gene in Fabry disease.Semantic proximity Read ↗

Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.Semantic proximity Read ↗

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.Semantic proximity Read ↗

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