Fig. 4From: 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(FBN2, c.4108G > T) The FBN2 nonsense mutation was detected in severer affected individuals (II5, III5) but not in clinically less affected member (III4) or unaffected member (II6) by Sanger sequencing. The black arrows indicate the point of mutation (G > T)Back to article page