Fig. 2 | Scientific Reports

Fig. 2

From: Identification and functional study of a novel FOXC1 missense mutation in a Chinese family with Axenfeld–Rieger syndrome

Fig. 2

Sanger sequencing validation and multiple sequence alignment among different species. (A) Identification and confirmation of the FOXC1 heterozygous missense mutation (c.382C > T) in the ARS family. The mutation in FOXC1 is indicated by red downwards arrows. (B) Multispecies alignment showing significant conservation of the amino acid affected by the novel missense mutation.

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