Molecular basis of fabry disease: Mutations and polymorphisms in the human α-galactosidase A gene
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference55 articles.
1. Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome
2. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
3. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
4. Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.
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1. Difficulties in Diagnosing Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy (LVH): Is the Novel GLA Gene Mutation a Pathogenic Mutation or Polymorphism?;Balkan Journal of Medical Genetics;2023-07-01
2. A theoretical study on binding and stabilization of galactose and novel galactose analogues to the human α-galactosidase A variant causing Fabry disease;Biophysical Chemistry;2023-01
3. Lysosomal storage diseases. Sphingolipidoses — Fabry, Gaucher and Farber diseases;Pediatrician (St. Petersburg);2022-07-09
4. Unraveling the effect of A143T, P205T and D244N mutations in α-galactosidase A on its catalytic activity and susceptibility to globotriaosylceramide and iminosugar 1-deoxygalactonojirimycin chaperone;Journal of Molecular Liquids;2022-05
5. Neuropsychiatric Symptoms and Their Association With Sex, Age, and Enzyme Replacement Therapy in Fabry Disease: A Systematic Review;Frontiers in Psychiatry;2022-03-16
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