Novel TERC mutations
Mutation . | Location . | Family . | Presentation . |
|---|---|---|---|
| 79delC | Pseudoknot domain | DCR207 | FAA |
| 52-55delCTAA | Template region | DCR209 | S-MDS/DC |
| 48A>G | Template region | DCR230 | S-DC |
Mutation . | Location . | Family . | Presentation . |
|---|---|---|---|
| 79delC | Pseudoknot domain | DCR207 | FAA |
| 52-55delCTAA | Template region | DCR209 | S-MDS/DC |
| 48A>G | Template region | DCR230 | S-DC |
FAA indicates familial aplastic anemia; S, sporadic case; MDS, myelodysplastic syndrome.