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 va...

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