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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, n...

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Share to DNA Mutational Analysis
Share to Nucleic Acid Amplification Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Promoter Regions, Genetic

Share to Sequence Analysis, DNA

Share to Sequence Deletion

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 1 Protein

Share to Tumor Suppressor Proteins

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 2 Sept 2026. Prepared record publication-20877415-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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