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Eur J Hum Genet. 2006 Oct;14(10):1065-73. Epub 2006 Jul 26.

Tuberous sclerosis.

Author information

1
Department of Medical Genetics, University of Cambridge, Cambridge, UK. jrwy1@cam.ac.uk

Abstract

Tuberous sclerosis is a serious inherited disease which poses major challenges for affected families and those caring for them. Identification of the genes causing the condition and study of their protein products has shed light on the pathogenesis of the disease and provided valuable new information about signalling pathways regulating protein synthesis and cell growth. There is now the exciting possibility of drug therapy for some of the manifestations of the disease.

PMID:
16868562
DOI:
10.1038/sj.ejhg.5201625
[Indexed for MEDLINE]
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