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Fig.3 | BMC Medical Genetics

Fig.3

From: Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection

Fig.3

a The DNA sequencing chromatograms represent the affected and unaffected individuals. The corresponding DNA sequence is shown above the chromatograms and the arrow denotes the mutated nucleotide. b A graphic illustration of the 6 subunit transmembrane spanning PKD2 protein shows the position of identified mutation p.Arg592Ter

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