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(a) Sequence chromatograms of the family: a heterozygous change, c.598C>T, was identified in patients I-2, II-2 and III-1) (b) Schematic diagram of the PAX3 gene. The boxes indicate the structure of the PAX3 protein. The arrow of patient indicates the position of mutation in PAX3 protein. (c) Cross-species multiple alignment of PAX3 protein sequences, showing the evolutionally conserved sequence around position Q200.
