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Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report
BACKGROUND: Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. With the advancement of molecular diagnostic tools, more disease-causing mutations in α-galactosidase A (GLA) have been identified in Fabry disease. We found a novel mutation in a Korean f...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5078899/ https://www.ncbi.nlm.nih.gov/pubmed/27776503 http://dx.doi.org/10.1186/s12881-016-0338-7 |