A correlation between computer-predicted changes in secondary structure and the phenotype of retinal degeneration associated with mutations in peripherin/RDS.

Abstract excerpt

PURPOSE: To investigate a molecular understanding of how mutations can lead to different phenotypes, we analyzed the relationship between altered secondary structures predicted by missense mutations in the peripherin/RDS and clinical severity of autosomal-dominant retinal degeneration. METHODS: We analyzed thirteen different kinds of missense mutations in the second intradiscal loop of peripherin/RDS, previously...

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