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Mutation identification. (A) Chromatograms of direct cDNA sequencing of A320V. (B) PCR and BseYI restriction analysis of A320V. PCR-amplified products from a patient (lane P) and a normal control (lane N) were digested with BseYI and resolved on a 1.4% agarose gel. Lane M contains size markers. (C) Evolutionary conservation of the regions of vacuolar protein sorting 35 (VPS35) A320V using the program Vector NTI.
