A new mutation in the PDE6C gene in achromatopsia.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: pde6c gene; new mutation; mutation pde6c; pde6c ... See more keywords