Missense mutations to the TSC1 gene cause tuberous sclerosis complex-Reference-Cited by-同舟云学术

Missense mutations to the TSC1 gene cause tuberous sclerosis complex

Published:2008-10-01 Issue:3 Volume:17 Page:319-328
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Nellist Mark,van den Heuvel Diana,Schluep Diane,Exalto Carla,Goedbloed Miriam,Maat-Kievit Anneke,van Essen Ton,van Spaendonck-Zwarts Karin,Jansen Floor,Helderman Paula,Bartalini Gabriella,Vierimaa Outi,Penttinen Maila,van den Ende Jenneke,van den Ouweland Ans,Halley Dicky

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2008170.pdf

Reference31 articles.

1. Gomez M, Sampson J, Whittemore V eds: The Tuberous Sclerosis Complex. Oxford, UK: Oxford University Press, 1999.

2. Roach ES, DiMario FJ, Kandt RS et al: Tuberous sclerosis consensus conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol 1999; 14: 401–407.

3. van Slegtenhorst M, de Hoogt R, Hermans C et al: Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997; 277: 805–808.

4. The European Chromosome 16 Tuberous Sclerosis Consortium: Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993; 75: 1305–1315.

5. Li Y, Corradetti MN, Inoki K et al: TSC2: filling the GAP in the mTOR signaling pathway. Trends Biochem Sci 2003; 28: 573–576.

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