A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection

Figure 3

Chromatogram details of the forward and reverse sequencing of FBN1 gene exon 15 and flanking intronic regions. The sequence (a) shows a pathogenetic missense mutation (c.1906 A>G, p. Arg636Gly) as evaluated by SIFT in silico prediction (b).

(a)

(b)