HHT Mutation Database
Hereditary Hemorrhagic Telangiectasia
About This Site
This site was originally designed by a team from Heriot Watt University with input from various scientists and clinicians.The site is based upon the archtecture developed by the Image Systems Engineering Laboratory as part of the SCANweb Project, a collaborative project with the NHS funded by the New Opportunities Fund. For more details of SCANweb, see the SCAN website.
It is maintained on behalf of the HHT Foundation International by the Molecular Genetics Service at the Western General Hospital in Edinburgh. It is a locus specific database, registered at the HGVS Waystation database project, designed to catalogue all of the mutations and polymorphisms found in the HHT-associated genes, Endoglin (ENG) and Activin-like kinase 1 (ACVRL1).
The team that maintain this site are committed to its constant improvement and to keeping it as up to date as possible. If you have any feedback concerning this site please contact us.