Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

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Figure 3.
Figure 3.

Example of meltMADGE scanning in familial hypercholesteremia case collection. (A) Single gel image (one of six gels run in the same tank at the same time) meltMADGE scan of LDLR exon 3 for 92 (out of 460) SBFH cases; conditions were linear ramp 59°–64°C for 3 h at 50 V/2 A. The 16 tracks with mutant band patterns are ringed. Other tracks show identical wild-type pattern. (B) Examples of band patterns for wild type, artificial +ve control (COANN), and FH mutations in LDLR exon 3.

This Article

  1. Genome Res. 15: 967-977

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