Article
Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE.
Human mutation - 1 Jul 2000
Hass J, Mayer K, Rott H D
Abstract excerpt
Tuberous sclerosis (TSC) is an autosomal dominant disorder which is genetically heterogeneous with two genes, TSC1 and TSC2. TSC1 consists of 23 exons with exon 15 being the largest one comprising 559 bp. Representing 16% of the coding region exon 15 harbors 37% of the already identified point mutations in TSC1. Mutation screening of large DNA fragments as TSC1 exon 15 by SSCP has been a problem because of the...
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