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The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
BACKGROUND: Gaucher disease (GD) is caused by a deficiency of β-glucocerebrosidase, encoded by GBA. Haplotype analyses previously demonstrated founder effects for particular GBA mutations in Ashkenazi Jewish and French-Canadian populations. This study aimed to investigate the clinical characteristic...
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| Veröffentlicht in: | Orphanet J Rare Dis |
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| Hauptverfasser: | , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7656680/ https://ncbi.nlm.nih.gov/pubmed/33176831 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01597-0 |
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