Article
Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.
Human mutation - 1 Jan 1999
Bénit P, Kara-Mostefa A, Hadj-Rabia S, Munnich A, Bonnefont J P
Abstract excerpt
Considering the prevalence of truncating mutations in the tuberous sclerosis (TSC) hamartin gene (TSC1), we devised a protein truncation test (PTT) to analyze the full length coding sequence of TSC1. Studying 12 sporadic cases and three familial forms by a combination of PTT and single-strand conformation polymorphism analysis (SSCA), we found 5/15 mutations while PTT alone detected 4/15 truncating mutations, two...
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