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Mutation of extron 6, 11, and intron 11. (A) The hemizygous and homozygous samesense mutation in the c.DNA1311C > T site in extron11. (B) The hemizygous and homozygous mutation in the 1365-13T > C site in intron (C) The hemizygous/homozygous mutation in the c.DNA493A > G site in extron 6.
