The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
Abstract 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 charac...
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| Hlavní autoři: | , , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMC
2020-11-01
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| Edice: | Orphanet Journal of Rare Diseases |
| Témata: | |
| On-line přístup: | http://link.springer.com/article/10.1186/s13023-020-01597-0 |
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