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Article

[DNA diagnosis in Czech patients with tuberous sclerosis].

Casopis lekaru ceskych - 12 Apr 2000

Vrtĕl R, Santavá A, Santavý J, Polák P, Krejciríková E

Abstract excerpt

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterised by mental retardation, epilepsy, facial angiofibromas, lesions in the CNS and the occurrence of hamartomata in different tissues. There are two genes responsible (TSC1 and TSC2). The aim of the study is to adopt a diagnosis of the disease on DNA level. METHODS AND RESULTS: 111 DNA samples were collected from 45 families...

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Source

Identifiers

PMID: 10916206

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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