Organoids as a Personalized Medicine Tool for Ultra-Rare Mutations in Cystic Fibrosis: the Case of S955P and 1717–2A>G

BACKGROUND: For most of the >2,000 CFTR gene variants reported, neither the associated disease liability nor the underlying basic defect are known, and yet these are essential for disease prognosis and CFTR-based therapeutics. Here we aimed to characterize two ultra-rare mutations - 1717–2A>G...

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Vydáno v:Biochim Biophys Acta Mol Basis Dis
Hlavní autoři: Silva, Iris AL, Doušová, Tereza, Ramalho, Sofia, Centeio, Raquel, Clarke, Luka A, Railean, Violeta, Botelho, Hugo M, Holubová, Andrea, Valášková, Iveta, Yeh, Jiunn-Tyng, Hwang, Tzyh-Chang, Farinha, Carlos M., Kunzelmann, Karl, Amaral, Margarida D
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7484254/
https://ncbi.nlm.nih.gov/pubmed/32730979
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2020.165905
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