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 6.
Figure 6.

One gel image (out of 40) for meltMADGE scan of LDLR exon 8 (BWHHS cohort). Two variant band patterns were identified (ringed). Direct sequencing, as shown, identified these subjects to be heterozygous, respectively, for 1078G→A [D335N] and 1061-8T→C [IVS7–8].

This Article

  1. Genome Res. 15: 967-977

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