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...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2011-09-01
|
| Series: | BMC Research Notes |
| Subjects: | |
| Online Access: | http://www.biomedcentral.com/1756-0500/4/323 |