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The five novel variations identified in MFRP. A: The sequences of variations (indicated by an arrow) are shown on the left to compare with the wild type sequences on the right. B: The variations, c.664C>A and c.669G>A, were not observed in normal controls (NC) by heteroduplex-SSCP analysis. C: The mutation, c.664C>A (indicated by an arrow), changed a highly conserved residue from proline to threonine.
