Fig. 2

Results from quantitative analysis of FBN1 mRNA (a) FBN1 transcript levels in fibroblasts from controls (n = 6) and MFS patients with missense (n = 8), PTC (n = 3), and splice site mutations (n = 5), respectively. Significant differences (p < 0.05) were observed between mean FBN1 transcript levels in patients with missense mutations and patients with PTC mutations and between the levels in patients with missense mutations and patients with splice site mutations. b FBN1 transcript levels in fibroblasts from the patient with the missense mutation, c.G2447T, his affected mother and sister, both having the c.G2447T, and his unaffected sister, who tested negative for the mutation, compared to the level in controls (n = 6). The results are presented as the mean of two experiments with five seeding wells ± SD. The level in controls was assigned as 100 %