Fig. 3 | Journal of Human Genetics

Fig. 3

From: Identification of novel FBN1 variations implicated in congenital scoliosis

Fig. 3

Functional analyses of the recurrent missense variant, c.2613A>C (p.Leu871Phe). a The expression of FBN1 mRNAs from HEK293T cells transfected with the empty vector (EV), wild type (WT), or mutant (p. Leu871Phe: L871F) FBN1 plasmids. ns not significant. b Western blotting for the protein lysates. c, d Quantification of the western blotting results. The ratio of phosphorylated Smad2 and total Smad2 to β-actin are shown normalized to WT plasmid. Data are expressed as arbitrary units indicating mean ± SEM of three independent experiments. Statistical significance was calculated by Student’s t test, *P < 0.05. ns not significant.

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