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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.