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MDS_22337_sm_SuppFigure1.doc149KSupporting Information Figure 1. The results of mutation analysis of DYT1 gene. Family members, II:5, III:1, and III:4, revealed the presence of the GAG deletion. (A) The electrogram of heteroduplex assay. Abnormal shift bands in mutants are indicated by arrows. Bold letter indicated the affected. (B) Sequence analysis of the patient III:4. The GAG deletion site is indicated with bold underline and arrow. Normal control is shown in upper panel. Mutant allele, which mixed sequence with normal allele, is shown in lower panel for a patient.

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