HHT patients
| Patients | Genotype | Mutations | Used in studies |
|---|---|---|---|
| 16 | ALK1 | c.586A>G |
|
| 24 | ALK1 | no information | |
| 25 | ALK1 | c.772+2C>G | |
| 32 | ALK1 | c.867_868delinsTT (p.Gln290X) | |
| 33 | ALK1 | c.1, 403T>G (p.Met468Arg) | |
| 36 | ALK1 | c.329C>A (p.Ser110X) | |
| 29 | ENG | c.690-2A>T | |
| 30 | ENG | deletion of exon 2 | |
| 37 | ENG | c.1, 205dupA | |
| 38 | ENG (ENG family) | no information | |
| 44 | ENG | c.115delA | |
| 28 | ENG | no information | |
| 45 | ENG | no information | |
| CT002 | ENG | c.657-658delCA | qPCR for SOD1 and GPX1 |
| CT003 | ENG | c.1, 082_1, 085del (p.Thr361Serfs) | |
| CT004 | ALK1 | c.1, 107_1, 108delAG (p.Arg369fs) | |
| CT005 | ENG | c.20dupC (p.Leu8fs) | |
| CT006 | ENG | c.38T>G (p.Leu13Arg) | |
| CT007 | ALK1 | c.1, 231C>T (p.Arg411Trp) | |
| CT008 | ALK1 | c.1, 120C>T (R374W) | |
| CT009 | ENG | Familial mutation | |
| CT011 | ALK1 | c.430C>T (p.Arg144X) | |
| CT012 | ENG | c.588G>A (W196X) | |
| CT013 | ENG | c.657-658delCA | qPCR for SOD1 |
| CT016 | ALK1 | c.1, 435C>T (p.arg479*) | |
| CT001 | ENG | c.655C>G (p.His219Asp) |
qPCR: quantitative polymerase chain reaction; NOx: nitrogen oxide; GPX1: glutathione peroxidase 1