Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromo...

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Autori principali: Nellist, Mark, Sancak, Őzgür, Goedbloed, Miriam, Adriaans, Alwin, Wessels, Marja, Maat-Kievit, Anneke, Baars, Marieke, Dommering, Charlotte, van den Ouweland, Ans, Halley, Dicky
Natura: Articolo
Lingua:English
Pubblicazione: BioMed Central 2008
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2291454/
https://ncbi.nlm.nih.gov/pubmed/18302728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-9-10
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Accesso online

https://ncbi.nlm.nih.gov/pmc/articles/PMC2291454/
https://ncbi.nlm.nih.gov/pubmed/18302728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-9-10

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