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Figure 1: a: Family 1; the filled symbols indicate affected individuals, and the open symbols indicate unaffected individuals. The arrow points to proband 1. b: Sequencing results showed that proband 1 had a heterozygous G-to-A transition at nucleotide 892 of exon 8, which led to the conversion of alanine to threonine at amino acid position 298 (A298T). However, no such mutations were observed in the controls.

Figure 1: a: Family 1; the filled symbols indicate affected individuals, and the open symbols indicate unaffected individuals. The arrow points to proband 1.
b: Sequencing results showed that proband 1 had a heterozygous G-to-A transition at nucleotide 892 of exon 8, which led to the conversion of alanine to threonine at amino acid position 298 (A298T). However, no such mutations were observed in the controls.