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Article

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

Nature genetics - 1 Feb 1994

Green A J, Smith M, Yates J R

Abstract excerpt

Tuberous sclerosis (TSC) is an autosomal dominant condition with characteristic skin lesions, mental handicap, seizures and the development of hamartomas in the brain, heart, kidneys and other organs. Linkage studies have shown locus heterogeneity with a TSC gene mapped to chromosome 9q34 and a second, recently identified on 16p13.3. We have analysed DNA markers in eight hamartomas and one tumour from TSC...

Topics

Alleles
Angiomyolipoma
Astrocytoma
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 9
DNA, Neoplasm
Female
Gene Deletion
Genes, Tumor Suppressor
Genetic Markers
Hamartoma
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Kidney Neoplasms

Male

Pedigree

Tuberous Sclerosis

Source

Identifiers

PMID: 8162074
DOI: 10.1038/ng0294-193

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8162074-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.PMID 8162074Read ↗

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressorSemantic proximity Read ↗

Loss of heterozygosity in tuberous sclerosis hamartomas.Semantic proximity Read ↗

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.Semantic proximity Read ↗

Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas.Semantic proximity Read ↗

The molecular genetics of tuberous sclerosis.Semantic proximity Read ↗

Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.Semantic proximity Read ↗

Apparent preferential loss of heterozygosity atTSC2 overTSC1 chromosomal region in tuberous sclerosis hamartomasSemantic proximity Read ↗

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

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

Mutation detection in tumor suppressor genes using archival tissue specimens.Semantic proximity Read ↗

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

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

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