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Fig. 5 | Orphanet Journal of Rare Diseases

Fig. 5

From: Genetic insights into the ‘sandwich fusion’ subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing

Fig. 5

A Sequencing results showed that mutant mut1 (c.1213A > G (p.Lys405Glu)) and mut2 (c.1750A > G (p.Met584Val)) were successfully constructed. B, C The results of Western Blot showed that the pERK protein bands of mut2 decreased correspondingly, which stands for mut2 might lead to dysfunction of FGFR2. All the bands are normalized with GAPDH and Blank. *indicates p < 0.05

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172