HHT patients

PatientsGenotypeMutationsUsed in studies
16ALK1c.586A>G
  • Migration

  • qPCR for ENG, ALK1, CD26 and CXCR4

  • NOx in plasma

24ALK1no information
25ALK1c.772+2C>G
32ALK1c.867_868delinsTT (p.Gln290X)
33ALK1c.1, 403T>G (p.Met468Arg)
36ALK1c.329C>A (p.Ser110X)
29ENGc.690-2A>T
30ENGdeletion of exon 2
37ENGc.1, 205dupA
38ENG (ENG family)no information
44ENGc.115delA
28ENGno information
45ENGno information
CT002ENGc.657-658delCAqPCR for SOD1 and GPX1
CT003ENGc.1, 082_1, 085del (p.Thr361Serfs)
CT004ALK1c.1, 107_1, 108delAG (p.Arg369fs)
CT005ENGc.20dupC (p.Leu8fs)
CT006ENGc.38T>G (p.Leu13Arg)
CT007ALK1c.1, 231C>T (p.Arg411Trp)
CT008ALK1c.1, 120C>T (R374W)
CT009ENGFamilial mutation
CT011ALK1c.430C>T (p.Arg144X)
CT012ENGc.588G>A (W196X)
CT013ENGc.657-658delCAqPCR for SOD1
CT016ALK1c.1, 435C>T (p.arg479*)
CT001ENGc.655C>G (p.His219Asp)

qPCR: quantitative polymerase chain reaction; NOx: nitrogen oxide; GPX1: glutathione peroxidase 1