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Table 3 GBA genotype distribution in type 3 GD

From: Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

Genotype Frequency Percent
D409H/D409H 6 28.6
L444P/L444P 6 28.6
L444P/D409H 2 9.5
[E326K;N188S]/L444P 2 9.5
[E326K;L444P]/D409H 1 4.8
[E326K;L444P]/P182L 1 4.8
G377S/G195W 1 4.8
N370S/G195W 1 4.8
R463C/G377S 1 4.8
Total 21