Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation

Small insertions/deletions (INDELs) of ≤21 bp comprise 18% of all recorded mutations causing human inherited disease and are evident in 24% of documented Mendelian diseases. INDELs affect gene function in multiple ways: for example, by introducing premature stop codons that either lead to the produc...

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Hlavní autoři: Zhang, Xinjun, Lin, Hai, Zhao, Huiying, Hao, Yangyang, Mort, Matthew, Cooper, David N., Zhou, Yaoqi, Liu, Yunlong
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4014196/
https://ncbi.nlm.nih.gov/pubmed/24436305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu019
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