Genetic screening of Fabry patients with EcoTILLING and HRM technology

Genetic screening of Fabry patients with EcoTILLING and HRM technology

<p>Abstract</p> <p>Background</p> <p>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...

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Dades bibliogràfiques
Autors principals: Iemolo Francesco, Francofonte Daniele, Zizzo Carmela, Albeggiani Giuseppe, Nuzzo Domenico, Bono Caterina, Sanzaro Enzo, Duro Giovanni
Format: Article
Idioma:English
Publicat: BMC 2011-09-01
Col·lecció:BMC Research Notes
Matèries:
Anderson-Fabry
haplotype
screening
HRM
EcoTILLING
Accés en línia:http://www.biomedcentral.com/1756-0500/4/323

Internet

http://www.biomedcentral.com/1756-0500/4/323

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