Fig. 3From: Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected familySanger sequencing chromatograms of the II5, II6, III4 and III5 (COL1A2, c.3304G > C). The COL1A2 missense mutation was detected in all affected individuals (II5, III4 and III5) but not in unaffected members (II6) by Sanger sequencing. The black arrows indicate the point of mutation (G > C)Back to article page