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 |