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Effects of a chemical chaperone on genetic mutations in α-galactosidase A in Korean patients with Fabry disease
Fabry disease is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the gene encoding the α-galactosidase A (GLA) enzyme. We have identified 15 distinct mutations in the GLA gene in 13 unrelated patients with classic Fabry disease and 2 unrelated patients with at...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Korean Society of Medical Biochemistry and Molecular Biology
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2679280/ https://ncbi.nlm.nih.gov/pubmed/19287194 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3858/emm.2009.41.1.001 |
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