Concepedia

Genes and Mutations in Autosomal Dominant Cone and Cone-Rod Dystrophy

Susanne Kohl, Veronique Kitiratschky, Monika Papke, Simone Schaich, Alexandra Sauer, Bernd Wissinger

Advances in experimental medicine and biology · 2011 · 21 citations · 17 references

DOI

Concepts

References

17

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

John A. Wells, John J. Wroblewski, Jeffrey Keen et al. · Nature Genetics · 1993 · 438 citations

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The Human AC133 Hematopoietic Stem Cell Antigen Is also Expressed in Epithelial Cells and Targeted to Plasma Membrane Protrusions

Denis Corbeil, Katja Röper, Andrea Hellwig et al. · Journal of Biological Chemistry · 2000 · 435 citations · Full text

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Phototransduction, Dark Adaptation, and Rhodopsin Regeneration The Proctor Lecture

Trevor D. Lamb, Edward N. Pugh · Investigative Ophthalmology & Visual Science · 2006 · 307 citations · Full text

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A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration

Marion A. Maw · Human Molecular Genetics · 2000 · 294 citations · Full text

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Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy

Rosemary E. Kelsell, Kevin Gregory-Evans, Annette Payne et al. · Human Molecular Genetics · 1998 · 232 citations

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