Article
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
Ophthalmic genetics - 1 Sept 2007
Thiagalingam Sureka, McGee Terri L, Weleber Richard G, Sandberg Michael A, Trzupek Karmen M, Berson Eliot L, Dryja Thaddeus P
Abstract excerpt
PURPOSE: To identify mutations in KCNV2 in patients with a form of cone dystrophy characterized by a supernormal rod electroretinogram (ERG). METHODS: The 2 exons and flanking intron DNA of KCNV2 from 8 unrelated patients were PCR amplified and sequenced. RESULTS: We found 1 frameshift, 2 nonsense, 1 non-stop, and 6 missense mutations. Every patient had one or two mutations identified. Of the missense mutations,...
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