Article
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.
Human mutation - 1 Jul 2006
Rivolta Carlo, McGee Terri L, Rio Frio Thomas, Jensen Roderick V, Berson Eliot L, Dryja Thaddeus P
Abstract excerpt
Dominant mutations in the mRNA splicing factor gene PRPF31 (RP11) cause retinitis pigmentosa with reduced penetrance. We studied the expression of RP11 in lymphoblast cell lines from 10 patients, including three who were clinically asymptomatic, with six distinct RP11 mutations. Five of the six mutations were characterized and all five created premature nonsense codons or eliminated the normal initiation codon....
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