Summary of meltMADGE findings for LDLR exon 3 in 460 unrelated familial hypercholesterolemia previously scanned by SSCP
Mutation | Original detect method | No. of subjects | Detection by meltMADGE | Classified band pattern |
|---|---|---|---|---|
| delGT196_197 (fsV45)a | Not detected by SSCP | 1 | Yes | 7 |
| W66G | Detected | 5 | Yes | 7 |
| C68Y | Detected | 3 | Yes | 3 |
| D69G | Detected | 2 | Yes | 4 |
| fsE80 | Detected | 3 | Yes | 6 |
| E80K | Detected | 27 | Yes | 5 |
| C83Fa | Not detected by SSCP | 1 | Yes | 5 |
| 313+1G→A | Detected | 29 | Yes | 2 |
a Detected by meltMADGE, followed up by direct sequencing