We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Molecular genetic advances in tuberous sclerosis.
- Authors
Cheadle, Jeremy P.; Reeve, Mary Pat; Sampson, Julian R.; Kwiatkowski, David J.
- 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.
- Subjects
TUBEROUS sclerosis; PHAKOMATOSES; MULTIPLE tumors; GENETIC disorders; DISEASES; MOLECULAR genetics
- Publication
Human Genetics, 2000, Vol 107, Issue 2, p97
- ISSN
0340-6717
- Publication type
Article
- DOI
10.1007/s004390000348