Article
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
American journal of human genetics - 1 Jan 2001
Dabora S L, Jozwiak S, Franz D N, Roberts P S, Nieto A, Chung J, Choy Y S, Reeve M P, Thiele E, Egelhoff J C, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski D J
Abstract excerpt
Tuberous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations in either of two genes, TSC1 and TSC2. Here we report comprehensive mutation analysis in 224 index patients with TSC and correlate mutation findings with clinical features. Denaturing high-performance liquid chromatography, long-range polymerase chain reaction (PCR), and quantitative PCR were used for mutation detection....
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