An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation
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DOI: 10.1016/j.exer.2018.02.027
Abstract: Abstract The cyclic nucleotide‐gated (CNG) channel ‐ composed of CNGA3 and CNGB3 subunits ‐ mediates the influx of cations in cone photoreceptors after light stimulation and thus is a key element in cone phototransduction. Mutations… read more here.
Keywords: short isoform; early nonsense; cnga3; isoform ... See more keywords