Transcriptional regulation of PRPF31 : the role of variable gene expression in determining phenotype in retinitis pigmentosa
Mutations in PRPF31 have been implicated in autosomal dominant retinitis pigmentosa (adRP) for over a decade, yet the molecular basis underlying the observed phenotypic non-penetrance in families remains unknown. In the population, there are differentially expressed alleles of PRPF31: both high-expr...
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University College London (University of London)
2012
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.625935 |