Article
Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning.
Human genetics - 1 Dec 2002
Jeganathan Dharini, Fox Margaret F, Young Janet M, Yates John R W, Osborne John P, Povey Sue
Abstract excerpt
Many mRNAs carrying mutations that are predicted to encode a truncated protein are subject to a mechanism known as nonsense-mediated mRNA decay (NMD), which results in reduced levels of mutant transcript. Tuberous sclerosis (TSC), an autosomal dominant neurocutaneous disorder with mutations in either of two genes, TSC1 or TSC2, requires comprehensive screening of both genes for molecular diagnosis. Virtually all...
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