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Article

Tuberous sclerosis: between genetic and physical analysis.

Acta geneticae medicae et gemellologiae - 1 Jan 1996

Halley D J

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder with extensive clinical variability. Present estimates of the prevalence of TSC suggest that it may exceed 1:6,000. New mutations are frequent, as about 2/3 of all cases are apparently sporadic. Locus heterogeneity has been established, with one gene on chromosome 9q34 (TSC1) and the other on chromosome 16p13.3 (TSC2). The majority of...

Topics

Genetic Linkage
Humans
Mutation
Repressor Proteins
Tuberous Sclerosis
Tuberous Sclerosis Complex 2 Protein
Tumor Suppressor Proteins

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8872012
DOI: 10.1017/s0001566000001112

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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