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Table 2 GBA genotypes and ethnicity of South Florida patients with GD1

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

  GBA genotype

Ashkenazi Jewish

Non-Ashkenazi Jewish: Hispanic

Non-Ashkenazi Jewish: Caucasian

N370S/N370S

51*

 

2

N370S/V394L

5*

  

N370S/84GG

4

  

N370S/IVS2+1

2

  

N370S/L444P

2

2

7*

N370S/other

5*

 

5

Other/other

2

1

 

Unknown

4

 

1

  1. *Includes 1 sibling pair.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172