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Identification of FBN1 mutations in BAV patients. A: Sequence chromatogram showing c.1586 G > A (p. Arg529Gln) mutation, identified in P1 patient. B1/B2: Sequence chromatograms showing c.1906 A > G (p. Arg636Gly) and c.8176C > T (p. Arg2726Trp) mutations, identified in P2 patients. Arrows indicate the locations of the point mutations.
