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Yong Qing Gao, Michael Danciger, Reid Longmuir, Natik I. Piriev, Dan Yun Zhao, John R. Heckenlively, Gerald A. Fishman, Richard G. Weleber, Samuel G. Jacobson, Edwin M. Stone, Debora B. Farber; Screening of the Gene Encoding the α′-Subunit of Cone cGMP-PDE in Patients with Retinal Degenerations. Invest. Ophthalmol. Vis. Sci. 1999;40(8):1818-1822.
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purpose. To screen the exons of the gene encoding the α′-subunit of cone
cyclic guanosine monophosphate (cGMP)-phosphodiesterase
(PDE6C) for mutations in a group of 456 unrelated
patients with various forms of inherited retinal disease, including
cone dystrophy, cone–rod dystrophy, macular dystrophy, and
simplex/multiplex and autosomal recessive retinitis pigmentosa.
methods. The 22 exons of the PDE6C gene were screened for
mutations either by denaturing gradient gel electrophoresis and
single-strand conformation polymorphism electrophoresis (SSCP) or by
SSCP alone; variants were sequenced directly.
results. Although many sequence variants were found, none could be associated
conclusions. The results show that PDE6C was not the site of
the mutations responsible for the types of inherited retinal
degenerations analyzed in the large population of patients in the
present study. The types of degeneration included those that
predominantly affect cone-mediated function (cone and cone–rod
dystrophies) or rod-mediated function (retinitis pigmentosa) or that
have a predilection for disease in the macula (macular
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