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 5.
Figure 5.

Overview of a mutation scan by meltMADGE of one cohort (LDLR exon 3, SAS). (A) Annotated enlarged gel images for array 4 and array 15 (artificial +ve control; and control WT labeled). (B) Sense strand sequencing of subject E1 in array 15. Heterozygous mutation 313C→T (P84S) is marked by an arrow.

This Article

  1. Genome Res. 15: 967-977

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