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(a) Electropherograms from the proband (A) and a control subject (B). The sequence variation is a G to A transition at position 194 (GenBank Acc. no. AJ246001: c.194G>A) causing the substitution of arginine at position 65 with a histidine (p.R65H). (b) The residue at position 65 is highly conserved among different species.
