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Table 9 GD1 Genotypes in different world populations

From: Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes

Country or Region

N370S/N370S (%)

N370S/L444P (%)

N370S/other (%)

Total N370S (%)

Spain and Portugal (N = 370)

16.8

31.6

43.2

91.6

France* (N = 203)

19.2

20.2

60.6

?

Netherlands (N = 40 unrelated)

2.5

40.0

45.0

87.5

Italy (N = 106 unrelated)

12.3

25.4

49.1

86.8

UK and Ireland (N = 30)

30.3

3.3

40.0

73.6

Turkey (N = 32)

31.2

18.8

25.0

75.0

Latin America (N = 431)

11.7

29.3

52.0

93.0

World ICGG Registry 1998 (N = 680)

24.0

18.1

46.7

88.8

Jewish: USA and Israel (N = 545 unrelated)§

45.0

8.8

34.1

87.9

AZ CT NJ NY, USA (N = 403)

53.6

13.4

33.0

100.0

South Florida, USA (N = 84 unrelated)

61.9

11.9

22.6

96.4

  1. *Restricted to GD1 patients with at least one N370S allele.
  2. §From Boot RG et al. Human Mutation. 10:348:1997.