Figure 2 of
Pepe, Mol Vis 2007;
13:2242-2247.
Figure 2. Distribution of fibrillin 1 mutations in patients with ectopia lentis/mild form of Marfan syndrome
Schematic representation of the protein domains. The numbers in bold correspond to FBN1 exons. Most mutations detected in EL/mild form of MFS appear to cluster in two hot spots.