Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the <i>MYH11</i> Gene with Several In-Frame Abnormal Transcripts

<div>Enzymatic digestion of the DNA PCR amplification products in this family. The restriction map of the <i>BveI</i> enzyme is illustrated on the top of the figure. The enzymatic digestion was loaded onto a 10% acrylamide gel and captured with ChemiDoc™ system (Bio-Rad®). The alternative band of 172 bp corresponding to the loss of a restriction <i>BveI</i> site was only identified in the proband who carries the c.3879+1G&gt;A variation.</div>

Human Mutation

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Figure 4

Figure 4: Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the <i>MYH11</i> Gene with Several In-Frame Abnormal Transcripts 

Figure 4 | Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts 