Article
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
Orphanet journal of rare diseases - 11 Nov 2020
Kim Yoo-Mi, Choi Jin-Ho, Kim Gu-Hwan, Sohn Young Bae, Ko Jung Min, Lee Beom Hee, Cheon Chong Kun, Lim Han Hyuk, Heo Sun-Hee, Yoo Han-Wook
Abstract excerpt
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 characteristics and mutation spectrum of GBA in Korean GD patients and to identify founder effect of GBA p.G85E in...
Topics
- Adolescent
- Adult
- Canada
- Child
- Child, Preschool
- Gaucher Disease
- Glucosylceramidase
- Humans
- Infant
- Middle Aged
- Mutation
- Neuroprotective Agents
- Republic of Korea
- Young Adult