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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Bibliografiska uppgifter
Huvudupphovsmän: Qin, Wei, Chan, Jennifer A., Vinters, Harry V., Mathern, Gary W., Franz, David N., Taillon, Bruce E., Bouffard, Pascal, Kwiatkowski, David J.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Blackwell Publishing Ltd 2010
Ämnen:
Research Articles
Länkar: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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