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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2011
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| Materias: | |
| 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 |