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Identification of mutations in Colombian patients affected with Fabry disease

Fabry Disease (FD) is an X-linked inborn error of glycosphingolipid catabolism, caused by a deficiency of the lisosomal ?-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...

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Detalles Bibliográficos
Autores Principales: Uribe, Alfredo, Mateus, Heidi Eliana, Prieto, Juan Carlos, Palacios, Maria Fernanda, Ospina, Sandra Yaneth, Pasqualim, Gabriela, da Silveira Matte, Ursula, Giugliani, Roberto
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: Elsevier 2015
Materias:
Alpha galactosidase
Adult
Article
Clinical article
Colombian
Exon
Fabry disease
Female
Gene
Gene identification
Gene mutation
Genetic analysis
Genetic counseling
Genotype
Heterozygote
Human
Male
Middle aged
Open reading frame
Phenotype
Priority journal
Sequence analysis
Colombia
Dna mutational analysis
Genetic association study
Genetic heterogeneity
Genetics
Heterozygote detection
Molecular genetics
Mutation
Nucleotide sequence
Alpha-galactosidase
Base sequence
Genetic association studies
Humans
Molecular sequence data
Gla gene
Lysosomal disorder
Mutations
?-galactosidase a
Acceso en línea:https://repository.urosario.edu.co/handle/10336/24132
https://doi.org/10.1016/j.gene.2015.08.018

Internet

https://repository.urosario.edu.co/handle/10336/24132
https://doi.org/10.1016/j.gene.2015.08.018

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