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Article

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

Human mutation - 1 Jan 1999

Niida Y, Lawrence-Smith N, Banwell A, Hammer E, Lewis J, Beauchamp R L, Sims K, Ramesh V, Ozelius L

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of multiple hamartomas involving many organs. About two-thirds of the cases are sporadic and appear to represent new mutations. With the cloning of two causative genes, TSC1 and TSC2 it is now possible to analyze both genes in TSC patients and identify germline mutations. Here we report the mutational analysis of...

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

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Source

Identifiers

PMID: 10533067
DOI: 10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K

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→

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Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.PMID 10533067Read ↗

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

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

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.Semantic proximity Read ↗

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

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

Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children.Semantic proximity Read ↗

Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.Semantic proximity Read ↗

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.Semantic proximity Read ↗

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.Semantic proximity Read ↗

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

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

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