Article
Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.
Human mutation - 1 Feb 2009
Tanner Gaby, Glaus Esther, Barthelmes Daniel, Ader Marius, Fleischhauer Johannes, Pagani Franco, Berger Wolfgang, Neidhardt John
Abstract excerpt
Retinitis pigmentosa (RP) is a degenerative retinopathy leading to visual impairment in more than 1.5 million patients worldwide. Splice site (SS) mutations cause various diseases including RP. Most exonic donor splice-site (DS) mutations are reported at the last nucleotide of an exon and over 95% of them are predicted to result in missplicing. A novel human mutation at the last nucleotide of exon 4 in rhodopsin...
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