Table 3 of Redeker, Mol Vis 2008; 14:836-840.
Table 3 of Redeker, Mol Vis 2008; 14:836-840.
Table 3. Gross deletions identified by MLPA kit P219 in eight isolated aniridia patients and in two WAGR patients as well as the results of the FISH analysis on these patients.
| Patient | Deleted PAX6 exons | Other deleted probes* | Confirmation | Deleted FISH probes |
| 4 | exon 8–14 | - | MLPA kit P097 | - |
| 5 | exon 8–14 | - | MLPA kit P097 | - |
| 17 | exon 9 | - | Long range PCR | - |
| 45 | exon 9–14 | - | MLPA kit P097 | - |
| 50 | exon 1–14 | DCDC1 exon 4 - LOC646008 exon 4 | MLPA kit P097 | ND** |
| 57 | exon 1–14 | ELP4 - DKFZ exon 3 | MLPA kit P097 | ND** |
| 69 | exon 1–14 | DCDC1 exon 4- DKFZ exon 1 | MLPA kit P097 | - |
| 71 | - | DCDC1 exon 4 - ELP4 | contiguous probes | - |
| WAGR1 | exon 1–14 | DCDC1 exon 4 – HIPK3 | MLPA kit P097 | FAT5, p60, B2.1 |
| WAGR2 | exon 1–14 | BDNF exon 2 - CD44 | MLPA kit P097 | FAT5, p60, B2.1 |