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Article

Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis

30 Apr 2004

Abstract excerpt

Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by mutations in either the TSC1 or TSC2 gene. Both genes are tumour suppressor genes and encode the proteins hamartin and tuberin, respectively. Recent work has established that tuberin and hamartin interact to form a complex, and that this tuberin-hamartin complex antagonises signal transduction by preventing the activation of p70 S6 kinase,...

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Identifiers

PMID: 15121792
DOI: 10.1136/jmg.2003.010835

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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