Article
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
Human molecular genetics - 1 Oct 1994
Eng C M, Niehaus D J, Enriquez A L, Burgert T S, Ludman M D, 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. To determine the nature and frequency of the molecular lesions causing the classical and milder variant Fabry phenotypes, and for precise carrier detection...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Codon
- DNA
- Dinucleoside Phosphates
- Exons
- Family
- Female
- Gene Rearrangement
- Humans
- Lymphocytes
- Male
- Molecular Sequence Data
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- RNA