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Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease
We report a new α-Galactosidase A (αGal-A) mutation in a 39-year-old Korean born, male Fabry disease patient. Fabry disease is a devastating, progressive inborn error of metabolism caused by X-linked genetic mutations. In this case, the first clinical symptom to occur was in childhood consisting of...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Society of Cardiology
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378036/ https://www.ncbi.nlm.nih.gov/pubmed/28382085 http://dx.doi.org/10.4070/kcj.2016.0321 |