Article
Altered functionality in rhodopsin point mutants associated with retinitis pigmentosa.
Biochemical and biophysical research communications - 28 Mar 2003
Andrés Anna, Garriga Pere, Manyosa Joan
Abstract excerpt
Point mutations found in rhodopsin associated with the retinal degenerative disease retinitis pigmentosa have been expressed in mammalian COS-1 cells, purified, and characterised. The mutations characterised-most of them for the first time-have been Met44Thr, Gly114Asp, Arg135Leu, Val137Met, and Pro171Leu in the transmembrane domain; Leu328Pro and Ala346Pro in the C-terminal tail of the cytoplasmic domain; and...
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