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Gene, mRNA, and protein sequence of four and a half LIM domain 1 isoforms. The c.542G>A locates on exon 6, the resultant p.Trp181Ter nonsense mutation results in premature truncation of the third LIM domain. FHL1A and FHL1B isoforms possess this domain and are probably affected by the mutation, while isoform FHL1C are preserved. The last panel showed the wild-type sequence from a normal person and the mutated sequence of the presenting patient.
