Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.

Author:

Apfelstedt-Sylla E,Theischen M,Ruther K,Wedemann H,Gal A,Zrenner E

Publisher

BMJ

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference27 articles.

1. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds);Travis, G.H.; Brennan, M.B.; Danielson, P.E.; Kozak, C.A.; Sutcliffe, J.G.;Nature,1989

2. Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disc membrane;Connell, G.; Molday, R.S.;Biochemistry,1990

3. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration;Connell, G.; Bascom, R.; Molday, L.; Reid, D.; McInnes, R.R.; Molday, R.S.,1991

4. The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA;Travis, G.H.; Christerson, L.; Danielson, P.E.; Klisak, I.; Sparkes, R.S.; Hahn, L.B.;Genomics,1991

5. Extensive genetic heterogeneity in autosomal dominant retinitis pigmentosa;Farrar, G.J.; Jordan, S.A.; Kumar-Singh, R.; Inglehearn, C.F.; Gal, A.; Greggory, C.,1993

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