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MEOX1 mutation analysis. (A) G → A nucleotide change (red box) in MEOX1 is identified by exome sequencing. (B) This nucleotide change causes the formation of a stop codon and a truncated protein. (C) The mutation is located at the end of the N terminal domain (N: N terminal domain, MID: middle domain, HD: home domain, C: C terminal domain; black vertical line shows mutation location).
