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Published in 2017 at "Scientific Data"
DOI: 10.1038/sdata.2017.182
Abstract: Retinal degeneration often affects the whole retina even though the disease-causing gene is specifically expressed in the light-sensitive photoreceptors. The molecular basis of the retinal defect can potentially be determined by gene-expression profiling of the…
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Keywords:
pde6c;
retinal degeneration;
expression profiling;
degeneration ... See more keywords
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Published in 2022 at "European journal of ophthalmology"
DOI: 10.1177/11206721221093023
Abstract: PURPOSE To report a case of achromatopsia with a new mutation in the PDE6C gene which has not been previously described. METHODS Case report. PATIENTS A single patient. RESULTS A 35-year-old woman with poor vision…
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Keywords:
pde6c gene;
new mutation;
mutation pde6c;
pde6c ... See more keywords