Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro
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DOI: 10.1098/rsos.191128
Abstract: 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… read more here.
Keywords: splice; syndrome mutations; cx26; kid syndrome ... See more keywords