Biochemical Characterisation of TSC1 and TSC2 Variants Identified in Patients with Tuberous Sclerosis Complex

摘要

The key findings of the project during the research period (23/1/09 - 31/7/09) are as follows: 1. Derivation and testing of 31 unclassified TSC2 variants: 16 classified as pathogenic; 7 classified as neutral; 8 still unclassified/analysis not complete. 2. Derivation of 12 unclassified TSC1 variants: 3 classified as pathogenic; 7 classified as neutral; 2 still unclassified/analysis not complete. 3. Improved assay cost, throughput and reproducibility. 4. Idenbtification of variants with an intermediate effect on TSC1-TSC2 activity.