Phenotype of autosomal dominant cone–rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://www.nature.com/articles/6702612.pdf
Reference11 articles.
1. Simunovic MP, Moore AT . The cone dystrophies. Eye 1998; 12: 553–565.
2. Kelsell RE, Evans K, Gregory CY, Moore AT, Bird AC, Hunt DM . Localisation of a gene for dominant cone–rod dystrophy (CORD6) to chromosome 17p. Hum Mol Genet 1997; 6(4): 597–600.
3. Kelsell RE, Gregory-Evans K, Payne AM, Perrault I, Kaplan J, Yang RB et al. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone–rod dystrophy. Hum Mol Genet 1998; 7(7): 1179–1184.
4. Payne AM, Morris AG, Downes SM, Johnson S, Bird AC, Moore AT et al. Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone–rod dystrophies. J Med Genet 2001; 38(9): 611–614.
5. Perrault I, Rozet JM, Gerber S, Kelsell RE, Souied E, Cabot A et al. A RETGC-1 mutation in autosomal dominant cone-rod dystrophy. Am J Hum Genet 1998; 63(2): 651–654.
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2. Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred;Eye;2022-12-12
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