Format

Send to

Choose Destination
Hum Genet. 2000 Aug;107(2):97-114.

Molecular genetic advances in tuberous sclerosis.

Author information

1
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.

Abstract

Over the past decade, there has been considerable progress in understanding the molecular genetics of tuberous sclerosis, a disorder characterised by hamartomatous growths in numerous organs. We review this progress, from cloning and characterising TSC1 and TSC2, the genes responsible for the disorder, through to gaining insights into the functions of their protein products hamartin and tuberin, and the identification and engineering of animal models. We also present the first comprehensive compilation and analysis of all reported TSC1 and TSC2 mutations, consider their diagnostic implications and review genotype/phenotype relationships.

PMID:
11030407
DOI:
10.1007/s004390000348
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center