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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...
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| Vydáno v: | BMC Med Genet |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5078899/ https://ncbi.nlm.nih.gov/pubmed/27776503 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0338-7 |
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