Article
[Prenatal diagnostics of tuberous sclerosis based on causal mutation knowledge].
Casopis lekaru ceskych - 1 Jan 2006
Vrtel R, Vodicka R, Santavá A, Santavý J, Krejciríková E
Abstract excerpt
BACKGROUND: Tuberous sclerosis is an autosomal-dominant disease characterised by development of benign growth - hamartomas in different organs. Disorder is caused by mutations affecting either of the tumor-suppressor genes, TSC1 or TSC2. Quest for causing mutations is very difficult due to their random distribution over the genes. METHODS AND RESULTS: Article refers on accomplishment of the first tuberous...
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