Article
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Molecular medicine (Cambridge, Mass.) - 1 Mar 1997
Eng C M, Ashley G A, Burgert T S, Enriquez A L, D'Souza M, Desnick R J
Abstract excerpt
BACKGROUND: Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A (alpha-Gal A) gene located at Xq22.1. To determine the nature and frequency of the molecular lesions causing the classical and milder variant Fabry phenotypes a...
Topics
- Chromosome Mapping
- DNA Mutational Analysis
- Exons
- Fabry Disease
- Female
- Gene Rearrangement
- Genetic Carrier Screening
- Genotype
- Humans
- Infant
- Male
- Mutation
- Phenotype
- Polymerase Chain Reaction
- RNA Splicing
- alpha-Galactosidase