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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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| 出版年: | BMC Med Genet |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2015
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| 主題: | |
| オンライン･アクセス: | 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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