1. From: Expression of PRPF31 mRNA in Patients with Autosomal Dominant Retinitis Pigmentosa: A Molecular Clue for Incomplete Penetrance?
Invest. Ophthalmol. Vis. Sci ;44(10): doi: /iovs
Figure Legend:
The schematic diagram of the AD5/RP856 pedigree depicting the individuals enrolled for the PRPF31 mRNA quantitation study with their mean mRNA copy number/μg of total RNA (×107) shown within parentheses. Symptomatic and asymptomatic disease gene carriers are drawn in solid black and check, respectively; all bear the deletion mutation (1115 to 1125 del) in PRPF31. Noncarrier individuals are drawn in white. In all disease gene carriers the disease allele is depicted as a solid black bar; for all individuals only the wild-type allele marker data is shown (an arrow indicates the position of PRPF31 gene within the RP11 markers). The different wild-type haplotype alleles inherited by asymptomatic individuals 316, 298 and symptomatic individuals 319, 320, 325, and 323 belonging to one sib-ship is distinguished from each other by the shading of the asymptomatic haplotype.
Date of download: 12/21/2017
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