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De novo mutation in a male patient with Fabry disease: a case report
BACKGROUND: Fabry disease is an X-linked inherited metabolic condition where the deficit of the α-galactosidase A enzyme, encoded by the GLA gene, leads to glycosphingolipid storage, mainly globotriaosylceramide. To date, more than 600 mutations have been identified in human GLA gene that are respon...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3892097/ https://ncbi.nlm.nih.gov/pubmed/24398019 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-7-11 |
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