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Expression Of Prpf31 Mrna In Patients With Autosomal Dominant Retinitis Pigmentosa: A Molecular Clue For Incomplete Penetrance?
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, no. 10 (2003): 4204-4209
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Abstract
PURPOSE. To investigate whether the incomplete penetrance phenotype characteristic of adRP families linked to chromosome 19q13.4 (RP11) with mutations in the PRPF31 gene is due to differentially expressed wild-type alleles in symptomatic and asymptomatic individuals.METHODS. Real-time quantitative RT-PCR was performed on RNA from lymphobl...More
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