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Disease onset and diagnosis of cobalamin C (cblC) and complement data: findings in 36 patients with cblC defect and thrombotic microangiopathy
| Variables | Findings |
|---|---|
| cblC defect | |
| Biochemical | 94 % (n = 34/36) |
| Genetic | 50 % (n = 18/36) |
| Mutations (allelic frequency) | |
| c.271dupA | 36 % (n = 13/36) |
| c.276G>T | 17 % (n = 6/36) |
| c.565C>A | 11 % (n = 4/36) |
| Complement system | |
| Normal | 87 % (n = 13/15) |
| CFH-autoantibodies | 6.6 % (n = 1/15) |
| CFH mutation | 6.6 % (n = 1/15) |
