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Pedigrees, mutational analyses of the AI kindred, and alignment of amino acid sequences. (A) Pedigree and haplotype of the kindred with the (g.18,742G>A) MMP20 mutation. (B) DNA sequencing chromatogram of the normal individual IV:2. (C) DNA sequencing chromatogram of the carrier individual IV:1. (D) DNA sequencing chromatogram of the proband IV:4. (E) MMP20 amino acid sequence alignment of various species. Note the high conservation of the affected alanine (A) among the species.
