Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated

BACKGROUND: Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), while mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). PKD1 lays immediately adjacent to TSC2 and deletions involving both genes, the PKD1/TSC2 contiguous gene syndrome (CGS), are c...

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Publicado en:BMC Med Genet
Autores principales: Cabrera-López, Cristina, Bullich, Gemma, Martí, Teresa, Català, Violeta, Ballarín, Jose, Bissler, John J., Harris, Peter C., Ars, Elisabet, Torra, Roser
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4631093/
https://ncbi.nlm.nih.gov/pubmed/26077033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0185-y
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