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Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro

The Cx26 mRNA has not been reported to undergo alternative splicing. In expressing a series of human keratitis ichthyosis deafness (KID) syndrome mutations of Cx26 (A88V, N14K and A40V), we found the production of a truncated mRNA product. These mutations, although not creating a cryptic splice site...

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Vydáno v:R Soc Open Sci
Hlavní autoři: Cook, Jonathan, de Wolf, Elizabeth, Dale, Nicholas
Médium: Artigo
Jazyk:Inglês
Vydáno: The Royal Society 2019
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6731697/
https://ncbi.nlm.nih.gov/pubmed/31598268
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1098/rsos.191128
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