Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

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

Full text not available from this repository.

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

Citation Data

Cited 282 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item