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Fig. 2 | BMC Medical Genetics

Fig. 2

From: A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description

Fig. 2

Variant sequencing. a Sanger sequencing of exon 17 in a heterozygous carrier (II:2) verified the presence of the c.3272_3273delCA variant in MYLK and the resulting frameshift. Sequencing was performed using a forward (top) and a reverse (bottom) primer. b Amplification of MYLK from cDNA using primers towards exon 17 and 18 identified only normal sequence in a homozygous non-carrier (II:2) (top) and in a heterozygous carrier (II:5) of the c.3272_3273delCA variant (bottom), thereby confirming nonsense-mediated mRNA decay.

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