Article
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.
Annals of human genetics - 1 Jul 1998
Kwiatkowska J, Jozwiak S, Hall F, Henske E P, Haines J L, McNamara P, Braiser J, Wigowska-Sowinska J, Kasprzyk-Obara J, Short M P, Kwiatkowski D J
Abstract excerpt
We performed a comprehensive analysis for mutations in the TSC1 gene using Southern blot analysis, and SSCP and heteroduplex analysis of amplified exons in 13 families with genetic linkage to the TSC1 region, 22 small families without linkage information, and 126 sporadic patients. 17 unique muta...
Topics
- Adolescent
- Adult
- Blotting, Southern
- Child
- Child, Preschool
- DNA Mutational Analysis
- Family Health
- Female
- Humans
- Intellectual Disability
- Mutation
- Nucleic Acid Heteroduplexes
- Penetrance
- Phenotype