Article
Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene.
Biochemistry - 9 Feb 2010
Conley Shannon M, Stricker Heidi M, Naash Muna I
Abstract excerpt
Mutations in the protein product of the retinal degeneration slow (RDS) gene cause both rod-dominant retinitis pigmentosa and different forms of cone-dominant macular dystrophies. In particular, mutations in codon 244 can cause either of these types of disease. In this study, we examine the biochemical effects of N244H and N244K in an effort to understand the mechanism underlying rod- and cone-dominant defects,...
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