Article
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
American journal of human genetics - 1 Feb 1998
Au K S, Rodriguez J A, Finch J L, Volcik K A, Roach E S, Delgado M R, Rodriguez E, Northrup H
Abstract excerpt
Ninety patients with tuberous-sclerosis complex (TSC) were tested for subtle mutations in the TSC2 gene, by means of single-strand conformational analysis (SSCA) of genomic DNA. Patients included 56 sporadic cases and 34 familial probands. For all patients, SSCA was performed for each of the 41 e...
Topics
- Adolescent
- Adult
- Animals
- Base Sequence
- Brain
- Child
- Child, Preschool
- Codon
- DNA Transposable Elements
- Exons
- Family
- Frameshift Mutation
- GTPase-Activating Proteins
- Genes, Tumor Suppressor
- Genetic Linkage
- Humans
- Infant
- Intellectual Disability