Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease - Vijayasarathy, Camasamudram; Sui, Ruifang; Zeng, Yong; Yang, Guoxing; Xu, Fei; Caruso, Rafael C.; Lewis, Richard A.; Ziccardi, Lucia; Sieving, Paul A. (Human mutation, 2010)
Keywords: Amino Acid Sequence; Amino Acid Substitution; Animals; Base Sequence; Chlorocebus aethiops; Codon, Initiator - genetics; COS Cells; discoidin; Electroretinography; Exons; Eye Proteins - chemistry; Eye Proteins - genetics; Eye Proteins - metabolism; Genetic Association Studies; Genetic Therapy; Genotype & phenotype; Humans; Hydrophobic and Hydrophilic Interactions; In Vitro Techniques; Introns; Male; Molecular Sequence Data; Mutation; Point Mutation; Protein Folding; Protein Sorting Signals - genetics; Protein Structure, Tertiary; Proteins; Recombinant Proteins - chemistry; Recombinant Proteins - genetics; Recombinant Proteins - metabolism; retinoschisin; Retinoschisis - genetics; Retinoschisis - pathology; Retinoschisis - physiopathology; Retinoschisis - therapy; signal sequence; splicing; X-linked retinoschisis; XLRS