Analysis of TSC Cortical Tubers by Deep Sequencing of TSC1, TSC2 and KRAS Demonstrates that Small Second‐Hit Mutations in these Genes are Rare Events

Tuberous sclerosis complex (TSC) is an often severe neurocutaneous syndrome. Cortical tubers are the predominant neuropathological finding in TSC, and their number and location has been shown to correlate roughly with the severity of neurologic features in TSC. Past studies have shown that genomic d...

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Detalhes bibliográficos
Main Authors: Qin, Wei, Chan, Jennifer A., Vinters, Harry V., Mathern, Gary W., Franz, David N., Taillon, Bruce E., Bouffard, Pascal, Kwiatkowski, David J.
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2010
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2951479/
https://ncbi.nlm.nih.gov/pubmed/20633017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.2010.00416.x
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