Published mutations not identified in 184 women with ICP
| Mutation | Exon | Diagnostic digest or methodology | Reference |
|---|---|---|---|
| PAA = polyacrylamide | |||
| Exon 6 insertion and/or deletion | 6 | Sequencing | 11, 13 |
| 959C>T | 9 | BamHI digest (cuts in WT only) | 19 |
| 1302 A>G | 12 | Cac8I digest (cuts in variant only) | 13 |
| 1307 G>A | 12 | HaeIII digest (cuts in WT only) | 13 |
| 1327insA | 12 | PCR incl 32P run on 6% PAA | 19 |
| Exon 14 insertion and/or deletion | 14 | PCR incl 32P run on 6% PAA | 11, 13 |
| 1669 C>A | 14 | SexAI digest (cuts in variant only) | 18 |
| 1712delT | 14 | RsaI digest (cuts in WT only) | 12 |
| 2901 C>T | 23 | TaqI digest (cuts in WT only) | 11 |