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Table 3 The relationship between OI type and mutated genes and mutation types

From: Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

Mutated genes and mutation types OI type
I III IV
COL1A1 (n = 28) 13 (46 %) 4 (14 %) 11 (39 %)
COL1A2 (n = 9) 3 (33 %) 1 (11 %) 5 (56 %)
Helical mutation (n = 15) 4 (27 %) 4 (27 %) 7 (47 %)
Haploinsufficiency (n = 21) 12 (57 %) 1 (5 %) 8 (38 %)
  1. OI osteogenesis imperfecta