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Article

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

Journal of medical genetics - 1 Dec 1998

Ali J B, Sepp T, Ward S, Green A J, Yates J R

Abstract excerpt

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by tumour-like malformations (hamartomas) of the brain, skin, and other organs, often associated with seizures and learning disability. There is genetic heterogeneity with loci for TSC on chromosomes 9q34 (TSC1) and 16p13.3 (TSC2). The recently cloned TSC1 gene has 23 exons spanning some 40 kb of genomic DNA with an 8.6 kb transcript. We now...

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Share to TSC2 gene
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Polymorphism, Genetic

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Source

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Identifiers

PMID: 9863590
DOI: 10.1136/jmg.35.12.969
PMCID: PMC1051505

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.PMID 9863590Read ↗

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.Semantic proximity Read ↗

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.Semantic proximity Read ↗

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.Semantic proximity Read ↗

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.Semantic proximity Read ↗

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.Semantic proximity Read ↗

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.Semantic proximity Read ↗

A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.Semantic proximity Read ↗

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.Semantic proximity Read ↗

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a reviewSemantic proximity Read ↗

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.Semantic proximity Read ↗

Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.Semantic proximity Read ↗

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.Semantic proximity Read ↗

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