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

Abstract

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.

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Document Details

Document Type
Technical Report
Publication Date
Jul 01, 2009
Accession Number
ADA509747

Entities

People

  • Mark Nellist

Organizations

  • Erasmus MC

Tags

DTIC Thesaurus Topics

  • Algorithms
  • Amino Acids
  • Antibodies
  • Biomedical Research
  • Cells
  • Chemical Reactions
  • Databases
  • Detection
  • Diseases And Disorders
  • Functional Analysis
  • Genes
  • Genetic Code
  • Genetics
  • Health Services
  • Polymerase Chain Reaction
  • Proteins
  • Sclerosis

Readers

  • Aquatic Ecology
  • Molecular Genetics
  • Oncology and Biomarker-Based Cancer Detection.