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 |