Complete CFTR gene mutation analysis in European patients with Cystic Fibrosis
To provide a service for highly parallel sequencing of the complete CFTR gene (including intronic and promoter regions) in patients with confirmed CF (maximum 5 patients per individual site) in whom a disease-causing mutation was not found on both CFTR genes.
Harry Cuppens (geneticist) and Kris De Boeck (clinician)
In cooperation with the ECFS Diagnostic Network Working Group (Nico Derichs)
Supported by a grant of Vertex Pharmaceuticals