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. 2020 Jan 16;16(5):859–868. doi: 10.7150/ijbs.38811

Figure 6.

Figure 6

Mutation analysis. A: A missense mutation, p.Gly246Arg, in exon 11 of COL2A1 was detected in the proband of Family 1. B: A missense mutation, a missense mutation in exon 23, p.Gly504Ser, in exon 23 was identified in the proband of Family 2. C: A missense mutation, Gly1014Val, in exon 45 was detected in the proband of Family 3. D: A missense mutation, p.Ter1488Gln, in exon 54 was identified in the proband and his mother of Family 4. E: A missense mutation, p.Gly204Val, in exon 9 was present in the proband, her father, sister and niece of Family 5. F: A missense mutation, p.Arg719Cys, in exon 33 was identified in two probands and 13 affected family members of Family 6 and Family 7. G: A missense mutation, p.Arg275Cys, in exon 13 was identified in the proband and her daughter of Family 8. H: A missense mutation, p.Gly678Glu, in exon 31 was found in the proband of Family 9. I: A splice site mutation, c.816+6C>T, in intron 12 was identified in the proband and his father of Family 10.