Article
Hereditary hemorrhagic telangiectasia type 1 and 2 mutations in Finland.
Acta oto-laryngologica - 1 Nov 2008
Sankelo Marja, Halme Maija, Laitinen Tarja, Mattila Petri S
Abstract excerpt
CONCLUSION: The finding of several new unique mutations suggests that the genes causing hereditary hemorrhagic telangiectasia (HHT), i.e. endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1), have a relatively high mutation rate. As no single founder mutation was found, analysis of the whole coding sequences of ENG and ACVRL1 genes remains the first choice in genetic testing of new index patients with HHT....
Topics
- Activin Receptors, Type I
- Adult
- Aged
- Antigens, CD
- Endoglin
- Female
- Finland
- Humans
- Male
- Middle Aged
- Mutation
- Receptors, Cell Surface
- Sequence Analysis, DNA
- Telangiectasia, Hereditary Hemorrhagic