Associated Papers
Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.
Liu M et al.
Investigative Ophthalmology & Visual Science, 2024
38517429 (PubMed )
Supplement: iovs-65-3-31_s001.pdf
Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.
Peng Y et al.
European Journal of Ophthalmology, 2022
Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.
Wawrzynski J et al.
Frontiers in Genetics, 2022
SNPs: impact on gene function and phenotype.
Shastry BS
Methods in Molecular Biology (clifton, N.j.), 2009
Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.
Kellner U et al.
Ophthalmic Genetics, 1996
Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.
Chen ZY et al.
Human Molecular Genetics, 1993
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