Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site
Abstract
The c.620 T > G mutation in rhodopsin found in the first mapped autosomal dominant retinitis pigmentosa (adRP) locus is associated with severe, early-onset RP. Intriguingly, another mutation affecting the same nucleotide (c.620 T > A) is related to a mild, late-onset RP. Assuming that both mutations are missense mutations (Met207Arg and Met207Lys) hampering the ligand-binding pocket, previous work addressed how they might...
Paper Details
Title
Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site
Published Date
Dec 9, 2019
Journal
Volume
29
Issue
2
Pages
295 - 304
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