Article
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Human mutation - 1 Jan 1994
Eng C M, Desnick R J
Abstract excerpt
Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A gene at Xq22.1. Studies of the mutations in unrelated Fabry families have identified a variety of lesions indicating the molecular genetic heterogeneity underlying the disease. Forty-nine different mutations have been described including five partial gene deletions, one partial gene...
Topics
- Base Sequence
- DNA Mutational Analysis
- DNA, Complementary
- Exons
- Fabry Disease
- Genes
- Genetic Carrier Screening
- Humans
- Molecular Sequence Data
- Multigene Family
- Mutation
- Phenotype