Leber Congenital Amaurosis

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

Medicine, Genetics, Molecular Genetics +10

Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene () Essential for Maintenance of the Photoreceptor

Carol L. Freund, Cheryl Y. Gregory‐Evans, Takahisa Furukawa et al. · Cell · 1997 · 563 citations · Full text

Medicine, Genetics, Molecular Genetics +16

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

Medicine, Genetics, Molecular Genetics +15

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

Life Sciences, Genetics, Molecular Genetics +10

The human photoreceptor membrane guanylyl cyclase, RetGC, is present in outer segments and is regulated by calcium and a soluble activator

Alexander M. Dizhoor · Neuron · 1994 · 345 citations

Life Sciences, Biochemistry, Molecular Biology +14