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Article

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.

European journal of human genetics : EJHG - 1 Feb 2011

van den Ouweland Ans M W, Elfferich Peter, Zonnenberg Bernard A, Arts Willem F, Kleefstra Tjitske, Nellist Mark D, Millan Jose M, Withagen-Hermans Caroline, Maat-Kievit Anneke J A, Halley Dicky J J

Abstract excerpt

Tuberous sclerosis complex (TSC), an autosomal dominant disorder, is a multisystem disease with manifestations in the central nervous system, kidneys, skin and/or heart. Most TSC patients carry a pathogenic mutation in either TSC1 or TSC2. All types of mutations, including large rearrangements, nonsense, missense and frameshift mutations, have been identified in both genes, although large rearrangements in TSC1...

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Share to DNA Mutational Analysis
Share to Nucleic Acid Amplification Techniques

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Promoter Regions, Genetic

Share to Sequence Analysis, DNA

Share to Sequence Deletion

Share to Tuberous Sclerosis

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Source

Open in PubMed Open full text

Identifiers

PMID: 20877415
DOI: 10.1038/ejhg.2010.156
PMCID: PMC3025786

Genes

TSC1
TSC2

Provenance

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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Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.PMID 20877415Read ↗

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