Genotype and cognitive phenotype of patients with tuberous sclerosis complex-Reference-Cited by-同舟云学术

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Genotype and cognitive phenotype of patients with tuberous sclerosis complex

Published:2011-12-21 Issue:5 Volume:20 Page:510-515
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

van Eeghen Agnies M,Black Margaux E,Pulsifer Margaret B,Kwiatkowski David J,Thiele Elizabeth A

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011241.pdf

Reference48 articles.

1. 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.

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

3. Li Y, Inoki K, Guan KL : Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity. Mol Cell Biol 2004; 24: 7965–7975.

4. Garami A, Zwartkruis FJ, Nobukuni T et al: Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2. Mol Cell 2003; 11: 1457–1466.

5. van Slegtenhorst M, Nellist M, Nagelkerken B et al: Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 1998; 7: 1053–1057.

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