Article
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
American journal of human genetics - 1 Dec 1993
Eng C M, Resnick-Silverman L A, Niehaus D J, Astrin K H, Desnick R J
Abstract excerpt
Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A (alpha-Gal 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 carr...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosome Deletion
- Cloning, Molecular
- DNA
- DNA Primers
- Fabry Disease
- Female
- Gene Frequency
- Gene Rearrangement
- Humans
- Molecular Sequence Data
- Mutation
- Phenotype
- Polymerase Chain Reaction
- RNA
- Transcription, Genetic
- X Chromosome