Skip to main content

Table 3 Review of carrier frequencies of Gaucher allele c.1448T>C

From: Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)

  

fraction

 

carriers identified

patients assayed

decimal

1-in-

reference

0

1528

0.00

n/a

DeMarchi et al.[38]

4

1364

0.30

340

Eng et al.[39]

3

3764

0.08

1200

Kronn et al.[40]

0

572

0.00

n/a

Oddoux et al.[41]

1

546

0.20

550

Eng et al.[42]

3

3764

0.08

1200

Allitto et al.[43]

12

7706

0.10

640

Strom et al.[44]

17

17184

0.10

1010

Horowitz et al.[1]

40

36428

0.11

910

cumulative