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Article

Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.

Annals of human genetics - 1 Nov 1998

Dabora S L, Sigalas I, Hall F, Eng C, Vijg J, Kwiatkowski D J

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of benign tumors in multiple organs often causing serious neurologic impairment. To develop a reliable genetic test for TSC, two-dimensional electrophoresis with denaturing gradient gel electrophoresis (2D DGGE) has been developed to detect mutations in TSC1. The 23 exons of TSC1 were amplified using two rounds 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: 10363127
DOI: 10.1046/j.1469-1809.1998.6260491.x

Genes

TSC1

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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Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.PMID 10363127Read ↗

Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene.Semantic proximity Read ↗

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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 ↗

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

Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.Semantic proximity Read ↗

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Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.Semantic proximity Read ↗

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Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.Semantic proximity Read ↗

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

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis ComplexSemantic proximity Read ↗

High-resolution melting analysis is a more effective approach for screening TSC genes mutations.Semantic proximity Read ↗

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