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Genotype frequency in pediatric patients with Wilson disease in Costa Rica
| Genotype | Number of patients (n = 34) |
|---|---|
| Homozygous | |
| p.N1270S/p.N1270S | 20 (58.8%) |
| Compound heterozygous | |
| p.N1270S/p.M645R | 2 (5.9%) |
| p.N1270S/p.L708P | 4 (11.7%) |
| p.N1270S/p.T1434M | 1 (3.0%) |
| One variant detected | |
| p.N1270S/− | 4 (11.7%) |
| p.M645R/− | 2 (5.9%) |
| No variants detected | |
| −/− | 1 (3.0%) |
