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...

Descripción completa

Detalles Bibliográficos
Autores principales: Nellist, Mark, Sancak, Őzgür, Goedbloed, Miriam, Adriaans, Alwin, Wessels, Marja, Maat-Kievit, Anneke, Baars, Marieke, Dommering, Charlotte, van den Ouweland, Ans, Halley, Dicky
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2291454/
https://www.ncbi.nlm.nih.gov/pubmed/18302728
http://dx.doi.org/10.1186/1471-2350-9-10

Internet

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

Ejemplares similares