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Frequencies of Mutation Type and Inhibitors in US Hemophilia B Patients
| Mutation type | No. of patients (%) | No. of patients with inhibitors (%) |
|---|---|---|
| Missense | 159 (70.4) | 0 |
| Nonsense | 25 (11.1) | 8 (32.0) |
| Frameshift | 10 (4.4) | 0 |
| Splice site change | 6 (2.7) | 0 |
| Large deletion | 14 (6.2) | 7 (50.0) |
| Small deletion | 5 (2.2) | 0 |
| Synonymous | 3 (1.3) | 0 |
| Promoter | 3 (1.3) | 0 |
| No mutation | 1 (0.4) | 0 |
| Total | 226 (100) | 15 (6.6) |
