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Figure 2: a: Family 2; the filled symbol indicates affected individuals, and the open symbol with a central black spot indicates the asymptomatic carrier,the arrow points to proband 2. b: Sequencing results showed a heterozygous A-to-G transition at nucleotide 782 in exon 7 (Y261C) and a heterozygous T-to-C transition at nucleotide 1679 in exon 15 (M560T). The controls, however, showed no similar mutations at either of these sites.

Figure 2: a: Family 2; the filled symbol indicates affected individuals, and the open symbol with a central black spot indicates the asymptomatic carrier,the arrow points to proband 2.
b: Sequencing results showed a heterozygous A-to-G transition at nucleotide 782 in exon 7 (Y261C) and a heterozygous T-to-C transition at nucleotide 1679 in exon 15 (M560T). The controls, however, showed no similar mutations at either of these sites.