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Type of COL1A1 and COL1A2 mutations
|
COL1A1 N = 30 (69.8%) |
COL1A2 N = 12 (27.9%) |
|
|---|---|---|
| Glycine substitution | 8 (27%) | 5 (42%) |
| Nonsense | 7 (23%) | 0 (0%) |
| Splice site | 8 (27%) | 3 (25%) |
| Frameshift | 6 (20%) | 0 (0%) |
| In-frame insertion | 0 (0%) | 3 (25%) |
| Other substitution | 1 (3%) | 1 (8%) |
