Table 3.
Case | Exon 11 | Exon 9 | Exon 13 | Exon 17 |
---|---|---|---|---|
1 | Deletion KVVEEING 558–565 R* | − | − | − |
2 | Point mutation V559D* | − | − | − |
3 | Deletion KPMYEVQWK 550–558* | − | − | − |
4 | Deletion D570 (homozygous)* | − | − | − |
5 | Deletion NYVYIDPTQL 567–576 KV* | − | − | − |
6 | Point mutation V560D* | WTDHPLC | − | − |
7 | Deletion QKPMYEVQWK 549–558Q (homozygous)* | WTDHPLC | WTDHPLC | WTDHPLC |
8 | Deletion KPMYEVQWK 550–558* | WTDHPLC | − | − |
9 | Deletion YIDPTQLPY 570–578* | WTDHPLC | − | − |
10 | Point mutation V559D* | WTDHPLC | − | − |
11 | WTDHPLC | Insertion AY 502–503* | − | − |
12 | WT* | WTDHPLC | WTDHPLC | WTDHPLC |
13 | WT* | WTDHPLC | −† | WTDHPLC |
*Sequence confirmed.
†Insufficient DNA available DHPLC denaturing HPLC.
−, Not done.