Q344ter mutation causes mislocalization of rhodopsin molecules that are catalytically active: a mouse model of Q344ter-induced retinal degeneration.
Q344ter is a naturally occurring rhodopsin mutation in humans that causes autosomal dominant retinal degeneration through mechanisms that are not fully understood, but are thought to involve an early termination that removed the trafficking signal, QVAPA, leading to its mislocalization in the rod ph...
Main Authors: | Francis Concepcion, Jeannie Chen |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2010-06-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC2880002?pdf=render |
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