Article
Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.
Molecular vision - 26 Jan 2004
Nishiguchi Koji M, Berson Eliot L, Dryja Thaddeus P
Abstract excerpt
PURPOSE: To search for a phenotype associated with mutations in the phosducin gene PDC. METHODS: We screened 853 patients with retinitis pigmentosa or an allied disease diseases, including groups of 61 to 212 patients, each with dominant retinitis pigmentosa (RP), recessive RP, Leber congenital amaurosis, or cone-rod degeneration, for mutations in the PDC gene using direct genomic sequencing of the three coding...
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