Molecular genetic advances in tuberous sclerosis

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Reeve, Mary Pat, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Kwiatkowski, David J. 2000. Molecular genetic advances in tuberous sclerosis. Human Genetics 107 (2) , pp. 97-114. 10.1007/s004390000348

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Springer
ISSN:	0340-6717
Last Modified:	25 Oct 2022 09:46
URI:	https://orca.cardiff.ac.uk/id/eprint/59940

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