Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Premature termination codon (PTC)-bearing transcripts are often degraded by nonsense-mediated decay (NMD) resulting in loss-of-function (LoF) alleles. However, not all PTCs result in LoF mutations, i.e., some such transcripts escape NMD and are translated to truncated peptide products that result in...

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Udgivet i:Am J Hum Genet
Main Authors: Coban-Akdemir, Zeynep, White, Janson J., Song, Xiaofei, Jhangiani, Shalini N., Fatih, Jawid M., Gambin, Tomasz, Bayram, Yavuz, Chinn, Ivan K., Karaca, Ender, Punetha, Jaya, Poli, Cecilia, Boerwinkle, Eric, Shaw, Chad A., Orange, Jordan S., Gibbs, Richard A., Lappalainen, Tuuli, Lupski, James R., Carvalho, Claudia M.B.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6081281/
https://ncbi.nlm.nih.gov/pubmed/30032986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.06.009
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