Article
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
Human mutation - 1 Sept 2003
Rodríguez-Marí Adriana, Coll M José, Chabás Amparo
Abstract excerpt
Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A gene (GLA). Here we report molecular studies in 22 unrelated Spanish patients with Fabry disease ( 20 males and two females). Fifteen novel mutations were identified. In addition 7 previously described mutations and two previously reported polymorphisms were detected. The 15 novel mutations...
Topics
- Adolescent
- Adult
- Child
- Fabry Disease
- Female
- Genetic Carrier Screening
- Homozygote
- Humans
- Male
- Mutation
- Spain
- alpha-Galactosidase