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 exons of the TSC2 gene. We identified 32 SSCA changes, 22 disease-causing mutations, and 10 polymorphic variants....
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