Article

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

2020-10-15

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold>Gaucher disease (GD) is caused by a deficiency of β-glucocerebrosidase, encoded by <italic>GBA</italic>. Haplotype analyses previously demonstrated founder effects for particular <italic>GBA</italic> mutations in Ashkenazi Jewish and French-Canadian populations. This study aimed to investigate the clinical characteristics and mutation spectrum of <italic>GBA</ita...

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Literature Corpus work: 61637b17-d1a8-5c54-9a45-1a5626ae4288
DOI: 10.21203/rs.3.rs-41734/v2

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