Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2006:572:141-6.
doi: 10.1007/0-387-32442-9_21.

Transgenic animal studies of human retinal disease caused by mutations in peripherin/rds

Affiliations
Review

Transgenic animal studies of human retinal disease caused by mutations in peripherin/rds

Xi-Qin Ding et al. Adv Exp Med Biol. 2006.
No abstract available

PubMed Disclaimer

References

    1. Apfelstedt-Sylla E, Theischen M, Ruther K, Wedemann H, Gal A, Zrenner E. Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. Br J Ophthalmol. 1995;79:28–34. - PMC - PubMed
    1. Ding XQ, Nour M, Ritter LM, Goldberg AF, Fliesler SJ, Naash MI. The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice. Hum Mol Genet. 2004;13:2075–2087. - PubMed
    1. Dryja TP, Hahn LB, Kajiwara K, Berson EL. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1997;38:1972–1982. - PubMed
    1. Ekstrom U, Andreasson S, Ponjavic V, Abrahamson M, Sandgren O, Nilsson-Ehle P, Ehinger B. A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration. Ophthalmic Genet. 1998;19:149–156. - PubMed
    1. Goldberg AF, Moritz OL, Molday RS. Heterologous expression of photoreceptor peripherin/rds and Rom-1 in COS-1 cells: assembly, interactions, and localization of multisubunit complexes. Biochemistry. 1995;34:14213–14219. - PubMed

Publication types