Concepedia

Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

Anneke I. den Hollander, John R. Heckenlively, L. Ingeborgh van den Born, Yvette J.M. de Kok, Saskia D. van der Velde-Visser, Ulrich Kellner, Bernhard Jurklies, Mary J. van Schooneveld, A. Blankenagel, Klaus Rohrschneider,

The American Journal of Human Genetics · 2001 · 365 citations · 19 references

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References

19

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

Charles R. Newton, Alexander Graham, Lesley Heptinstall et al. · Nucleic Acids Research · 1989 · 2.5K citations · Full text

, , +17

Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

Sumin Gu, Debra A. Thompson, C.R. Srikumari et al. · Nature Genetics · 1997 · 666 citations

, , +10

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis

Hiroyuki Morimura, Gerald A. Fishman, Sandeep Grover et al. · Proceedings of the National Academy of Sciences · 1998 · 489 citations

, , +15

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

Anneke I. den Hollander, Jacoline B. ten Brink, Yvette J.M. de Kok et al. · Nature Genetics · 1999 · 473 citations

, , +9

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Isabelle Perrault, Jean‐Michel Rozet, Patrick Calvas et al. · Nature Genetics · 1996 · 447 citations

, , +10