Table 1.

Patients with severe hemophilia with known nonsense mutations treated with gentamicin


Patient no.

Hemophilia

Nucleotide

Mutation

Conserved amino acid
1   A   4241C > A   Ser1395Stop   No  
2   B   30875C > T   Arg252Stop   Yes  
3   A   6403C > T   Arg2116Stop   Yes  
4   A   1536C > T   Arg427Stop   Yes  
5
 
B
 
31118C > T
 
Arg333Stop
 
Yes
 

Patient no.

Hemophilia

Nucleotide

Mutation

Conserved amino acid
1   A   4241C > A   Ser1395Stop   No  
2   B   30875C > T   Arg252Stop   Yes  
3   A   6403C > T   Arg2116Stop   Yes  
4   A   1536C > T   Arg427Stop   Yes  
5
 
B
 
31118C > T
 
Arg333Stop
 
Yes
 
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