A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT
Mutations in PRPF31 have been implicated in retinitis pigmentosa, a blinding disease caused by degeneration of rod photoreceptors. The disease mechanism in the majority of cases is haploinsufficiency. Crucially, attempts at generation of animal models of disease have proved unsuccessful, yielding an...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4341892/ |