Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by multiple hamartias and hamartomas involving throughout the body. To date, many TSC1 and TSC2 mutations have been reported all over the world, however, few TSC mutation studies have been performed in the Japanese population, and genetic characteristics of Japanese TSC patients are not yet clear. In this study, we analyzed TSC1 and...

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