Concepedia

A mutation in the Norrie disease gene (NDP) associated with X–linked familial exudative vitreoretinopathy

Z-Y. Chen, Elisabeth M. Battinelli, A R Fielder, Sarah Bundey, Katherine B. Sims, Xandra O. Breakefield, Ian Craig

Nature Genetics · 1993 · 357 citations · 29 references

DOI

Concepts

References

29

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

, , +14

Familial Exudative Vitreoretinopathy

V. Guy Criswick, Charles L. Schepens · American Journal of Ophthalmology · 1969 · 481 citations

, , +6

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

, , +12

Mendelian inheritance in man

Anthony R. Scialli · Reproductive Toxicology · 1991 · 293 citations

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Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

Brian E. Nichols, Val C. Sheffield, Kimberlie Vandenburgh et al. · Nature Genetics · 1993 · 278 citations

, , +12