Article
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
Human molecular genetics - 1 Jul 1998
Kelsell R E, Gregory-Evans K, Payne A M, Perrault I, Kaplan J, Yang R B, Garbers D L, Bird A C, Moore A T, Hunt D M
Abstract excerpt
The dominant cone-rod dystrophy gene CORD6 has previously been mapped to within an 8 cM interval on chromosome 17p12-p13. The retinal-specific guanylate cyclase gene (RETGC-1), which maps to within this genetic interval and previously was implicated in Leber's congenital amaurosis, was screened for mutations within this family and in a panel of small families and individuals with various cone and cone- rod...
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