Table 1 Breakdown of mutations found in the HAE cohort
From: Abstracts of 11th C1-inhibitor Deficiency & Angioedema Workshop
Number of patients | Observed mutation |
|---|---|
14 | SERPING1:EX8.1:NM_000062:c.1397G>A:p.R466H |
3 | NM_000062:c.1305delT:p.L436Ffs*14 |
3 | NM_000062:c.1202T>A:p. I401Â N |
2 | NM_000062:c.1029 + 1G>A |
1 | SERPING1:NM000062:EX3-1:c.265C>T:p.Q89* |
1 | NM_000062.1:c.1143delC:p.I382Sfs*15 |
1 | SERPING1:NM_000062:EX7:c.1187_1188insT:p.T397Nfs*28 |
1 | SERPING1:EX3.1:NM_000062: c.373G>T:p.G125* |
10 | Unsolved |
36 | Total Patients |