Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations-Reference-Cited by-同舟云学术

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

Published:2015-02-25 Issue:1 Volume:16 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Nellist Mark,Brouwer Rutger WW,Kockx Christel EM,van Veghel-Plandsoen Monique,Withagen-Hermans Caroline,Prins-Bakker Lida,Hoogeveen-Westerveld Marianne,Mrsic Alan,van den Berg Mike MP,Koopmans Anna E,de Wit Marie-Claire,Jansen Floor E,Maat-Kievit Anneke JA,van den Ouweland Ans,Halley Dicky,de Klein Annelies,van IJcken Wilfred FJ

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-015-0155-4/fulltext.html

Reference23 articles.

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2. Roach E, Gomez M, Northrup H. TSC consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998;13:624–8.

3. Northrup H, Koenig M, Au K. Tuberous sclerosis complex. Gene Rev. 2011; [ http://www.genetests.org ]

4. Laplante M, Sabatini DM. mTOR signaling in growth control and disease. Cell. 2012;149:274–93.

5. Dibble CC, Manning BD. Signal integration by mTORC1 coordinates nutrient input with biosynthetic output. Nat Cell Biol. 2013;15:555–64.

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