Fig 1 | Genetics in Medicine

Fig 1

From: Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases

Fig 1

LQT1 mutation detection using whole blood RNA: (A) Sequence of KCNQ1 cDNA sense strand (nucleotides 1631–1829, including exons 13–16) showing a common SNP in exon 13, 1638A>G (S546S), and a presumptive LQTS mutation, 1781G>C (R594P) in exon 15. (B) Corresponding DNA sequence from exon 15 confirming the 1781G>C mutation. (C) KCNQ1 cDNA sequence showing 430A>G (T144A), a previously reported LQTS mutation in exon 2 and (D) corresponding genomic DNA sequence.

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