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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...

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Identifiers

PMID: 33176831
DOI: 10.1186/s13023-020-01597-0
PMCID: PMC7656680

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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