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Article

Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.

European journal of human genetics : EJHG - 1 Nov 2001

Goedbloed M A, Nellist M, Verhaaf B, Reuser A J, Lindhout D, Sunde L, Verhoef S, Halley D J, van den Ouweland A M

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations to the TSC1 and TSC2 tumour suppressor genes. We detected two sequence changes involving the TSC2 stop codon and investigated the effects of these changes on the expression of tuberin, the TSC2 gene product, and on the binding between tuberin and the TSC1 gene product, hamartin. While elongation of the tuberin open reading...

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Identifiers

PMID: 11781698
DOI: 10.1038/sj.ejhg.5200728

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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