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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha: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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