Molecular analysis of the NDP gene in two families with Norrie disease
Author:
Publisher
Wiley
Subject
Ophthalmology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0420.2005.00398.x/fullpdf
Reference27 articles.
1. Frameshift mutations with severe and moderate clinical phenotypes in Thai haemophilia A patients;Akkarapatumwong;Hum Mutat,2000
2. Ocular histopathology of Norrie disease;Apple;Am J Ophthalmol,1974
3. Mutations in the candidate gene for Norrie disease;Berger;Hum Mol Genet,1992
4. Coats disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis;Black;Hum Mol Genet,1999
5. Norrie disease resulting from a gene deletion: clinical features and DNA studies;Donnai;J Med Genet,1988
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1. Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes;Ophthalmology Science;2024-09
2. Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent;Ophthalmic Genetics;2017-09-25
3. Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease;Indian Journal of Ophthalmology;2017
4. Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP;Human Mutation;2010-03-25
5. Novel Mutations in Norrie Disease Gene in Japanese Patients with Norrie Disease and Familial Exudative Vitreoretinopathy;Investigative Opthalmology & Visual Science;2007-03-01
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