Article
Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa.
Experimental eye research - 1 Feb 1996
Gao Y Q, Danciger M, Zhao D Y, Blaney J, Piriev N I, Shih J, Jacobson S G, Heckenlively J H, Farber D B
Abstract excerpt
Each of the 22 exons and 140 bp of the 5' untranslated region of the gene encoding the beta-subunit of cGMP-phosphodiesterase (PDE6B) were screened by denaturing gradient gel electrophoresis for mutations in the DNAs of 54 unrelated individuals with autosomal dominant retinitis pigmentosa. Six different sequence variants were found in seven patients. Four of the sequence variants did not segregate with disease in...
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