Article
Identification of mutations in Colombian patients affected with Fabry disease.
Gene - 15 Dec 2015
Uribe Alfredo, Mateus Heidi Eliana, Prieto Juan Carlos, Palacios Maria Fernanda, Ospina Sandra Yaneth, Pasqualim Gabriela, da Silveira Matte Ursula, Giugliani Roberto
Abstract excerpt
Fabry Disease (FD) is an X-linked inborn error of glycosphingolipid catabolism, caused by a deficiency of the lisosomal α-galactosidase A (AGAL). The disorder leads to a vascular disease secondary to the involvement of kidney, heart and the central nervous system. The mutation analysis is a valuable tool for diagnosis and genetic counseling. Although more than 600 mutations have been identified, most mutations...
Topics
- Adult
- Base Sequence
- Colombia
- DNA Mutational Analysis
- Fabry Disease
- Female
- Genetic Association Studies
- Genetic Carrier Screening
- Genetic Heterogeneity
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- alpha-Galactosidase