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Transcript analysis of the WAC splicing mutation identified in Family 3. (A) Agarose gel electrophoresis of the Reverse Transcriptase PCR products in the control samples (CTRL1, CTRL2) patient, and his father. (B) Electropherograms of the wild-type (upper) and aberrant (bottom) transcript sequence at slicing position showing the skipping of exon 4.
