Accession Number:

ADA509747

Title:

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

Descriptive Note:

Annual rept. 1 Jul 2008-30 Jun 2009

Corporate Author:

ERASMUS MEDICAL CENTER ROTTERDAM (NETHERLANDS)

Personal Author(s):

Report Date:

2009-07-01

Pagination or Media Count:

74.0

Abstract:

The key findings of the project during the research period 23109 - 31709 are as follows 1. Derivation and testing of 31 unclassified TSC2 variants 16 classified as pathogenic 7 classified as neutral 8 still unclassifiedanalysis not complete. 2. Derivation of 12 unclassified TSC1 variants 3 classified as pathogenic 7 classified as neutral 2 still unclassifiedanalysis not complete. 3. Improved assay cost, throughput and reproducibility. 4. Idenbtification of variants with an intermediate effect on TSC1-TSC2 activity.

Subject Categories:

  • Genetic Engineering and Molecular Biology
  • Medicine and Medical Research

Distribution Statement:

APPROVED FOR PUBLIC RELEASE