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Article

Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.

Journal of medical genetics - 1 Dec 1992

Sampson J R, Janssen L A, Sandkuijl L A

Abstract excerpt

Previous linkage studies in tuberous sclerosis have implicated three disease determining loci at 9q, 11q, and 12q. We have collated phenotypic and genotypic data on 1622 members of 128 families with tuberous sclerosis in order to evaluate simultaneously the evidence for these putative loci. Affection status in the family members has been reassessed using uniform diagnostic criteria and genotypic data extensively...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 9
Genetic Linkage
Genetic Markers
Genetic Variation
Genotype
Humans
Likelihood Functions

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lod Score

Models, Genetic

Phenotype

Tuberous Sclerosis

Source

Open in PubMed Open full text

Identifiers

PMID: 1479600
DOI: 10.1136/jmg.29.12.861
PMCID: PMC1016202

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1479600-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.PMID 1479600Read ↗

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