Missense mutation (Arg121Trp) in the norrie disease gene associated with X-linked exudative vitreoretinopathy

Familial Exudative Vitreoretinopathy

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

Medicine, Neurology, Ophthalmology +6

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

Z-Y. Chen, Elisabeth M. Battinelli, A R Fielder et al. · Nature Genetics · 1993 · 357 citations

Life Sciences, Genetics, Ophthalmology +12

Isolation and characterization of a candidate gene for Norrie disease

Z-Y. Chen, Rudi W. Hendriks, Mark A. Jobling et al. · Nature Genetics · 1992 · 197 citations

Life Sciences, Genetics, Molecular Genetics +13

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure

Thomas Meitinger, Alfons Meindl, Peer Bork et al. · Nature Genetics · 1993 · 178 citations

Life Sciences, Biochemistry, Molecular Biology +10

Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins

Wolfgang Berger, Thomas Meitinger, Dorien van de Pol et al. · Nature Genetics · 1992 · 170 citations

Life Sciences, Genetics, Molecular Biology +13