Associated Papers
Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.
Wawrzynski J et al.
Frontiers in Genetics, 2022
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.
Liu HY et al.
Journal of the Chinese Medical Association : Jcma, 2016
SNPs: impact on gene function and phenotype.
Shastry BS
Methods in Molecular Biology (clifton, N.j.), 2009
Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.
Allen RC et al.
Eye (london, England), 2006
Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene.
Zaremba J et al.
Ophthalmic Genetics, 1998
Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.
Kellner U et al.
Ophthalmic Genetics, 1996
Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.
Fuchs S et al.
Human Mutation, 1996
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