Article
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
European journal of human genetics : EJHG - 1 Jun 2005
Sancak Ozgur, Nellist Mark, Goedbloed Miriam, Elfferich Peter, Wouters Cokkie, Maat-Kievit Anneke, Zonnenberg Bernard, Verhoef Senno, Halley Dicky, van den Ouweland Ans
Abstract excerpt
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in multiple organs and tissues. TSC is caused by mutations in either the TSC1 or TSC2 gene. We searched for mutations in both genes in a cohort of 490 patients diagnosed with or suspected of having TSC using a combination of denaturing gradient gel electrophoresis, single-strand conformational...
Topics
- Adolescent
- Adult
- Blotting, Southern
- Child
- Child, Preschool
- Cohort Studies
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Female
- Genotype