Doctor Paul Brennan
University of Newcastle upon Tyne
- Mutations of the GLA gene and the relationship between the genotype and phenotype in Fabry disease
- X-linked inheritance and the role of X-chromosome inactivation.
- The importance of family-tree screening
- Variability of clinical presentation in Fabry disease, including that in females and the N215S mutation.
- Should clinical genetics influence Fabry-specific treatment?
Date of preparation: March 2023