Genetic screening of Fabry patients with EcoTILLING and HRM technology

BACKGROUND: Anderson-Fabry disease (FD) is caused by a deficit of the α-galactosidase A enzyme which leads to the accumulation of complex sphingolipids, especially globotriaosylceramide (Gb3), in all the cells of the body, causing the onset of a multi-systemic disease with poor prognosis in adulthoo...

Descripción completa

Detalles Bibliográficos
Autores principales: Bono, Caterina, Nuzzo, Domenico, Albeggiani, Giuseppe, Zizzo, Carmela, Francofonte, Daniele, Iemolo, Francesco, Sanzaro, Enzo, Duro, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3180462/
https://www.ncbi.nlm.nih.gov/pubmed/21896204
http://dx.doi.org/10.1186/1756-0500-4-323

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3180462/
https://www.ncbi.nlm.nih.gov/pubmed/21896204
http://dx.doi.org/10.1186/1756-0500-4-323

Ejemplares similares