The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects

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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Bibliographic Details
Main Authors: Yoo-Mi Kim, Jin-Ho Choi, Gu-Hwan Kim, Young Bae Sohn, Jung Min Ko, Beom Hee Lee, Chong Kun Cheon, Han Hyuk Lim, Sun-Hee Heo, Han-Wook Yoo
Format: Article
Language:English
Published: BMC 2020-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Gaucher disease
Founder effect
GBA
β-Glucocerebrosidase
Online Access:http://link.springer.com/article/10.1186/s13023-020-01597-0

Internet

http://link.springer.com/article/10.1186/s13023-020-01597-0

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