Article
Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.
Genetic testing - 1 Jan 2005
Nellist M, Sancak O, Goedbloed M A, van Veghel-Plandsoen M, Maat-Kievit A, Lindhout D, Eussen B H, de Klein A, Halley D J J, van den Ouweland A M W
Abstract excerpt
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3. Here we describe a deletion encompassing the TSC1 gene and two neighboring transcripts on chromosome 9q34 in six...
Topics
- Base Sequence
- DNA Primers
- Female
- Gene Deletion
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Mutation
- Pedigree
- Tuberous Sclerosis
- Tuberous Sclerosis Complex 1 Protein
- Tumor Suppressor Proteins