The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene
Gaucher disease (GD, ORPHA355) is a rare autosomal recessive genetic disease caused by mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase). Here, we report a patient with GD who carried the heterozygous c.1240G > C (p.Val414Leu) mutation and the heterozygous pathogeni...
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2023-01-01T00:00:00Z.
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