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TSC2

TSC2. By Samantha Lee. What is it?. Tuberin TSC1/hamartin Tumor suppressor (LOH) 41 small exons, 45 kb DNA  5.5 kb mRNA 196 kD. How does it work, downstream?. How does it work, upstream?. Harvard School of Public Health. Positional cloning 1993 Key Nonsense Missense Frameshift

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TSC2

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  1. TSC2 By Samantha Lee

  2. What is it? • Tuberin • TSC1/hamartin • Tumor suppressor (LOH) • 41 small exons, 45 kb DNA  5.5 kb mRNA • 196 kD

  3. How does it work, downstream?

  4. How does it work, upstream? Harvard School of Public Health

  5. Positional cloning 1993 Key Nonsense Missense Frameshift Splice Site How was is discovered? Hung et al.BMC Medical Genetics 2006

  6. What goes wrong? Nature Publishing Group

  7. Drosophila Eker Rats Fission Yeast What are the model organisms? Rare Disease Clinical Research Network

  8. What goes wrong in humans? Neurological Medicine Pocketbook

  9. Is there treatment?

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