Article
Expression and characterization of peripherin/rds-rom-1 complexes and mutants implicated in retinal degenerative diseases.
Methods in enzymology - 1 Jan 2000
Goldberg A F, Molday R S
Abstract excerpt
Nearly 40 disease-linked mutations have been reported for peripherin/rds to date; heterologous expression in tissue culture cells offers a valuable means of efficiently characterizing the biochemical properties of the various mutants. Peripherin/rds is proposed to act as an essential structural element in outer segment disk morphogenesis, and a present transgenic mice offer the sole tractable system in which...
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